ClinVar

NM_012340.5(NFATC2):c.2028C>G (p.His676Gln)

Genes:

LOC126863050:MED14-independent group 3 enhancer GRCh37_chr20:50051304-50052503 [Gene]
NFATC2:nuclear factor of activated T cells 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.2

Genomic location:

• Chr20: 51435192 (on Assembly GRCh38)
• Chr20: 50051729 (on Assembly GRCh37)

Preferred name:

NM_012340.5(NFATC2):c.2028C>G (p.His676Gln)

HGVS:

• NC_000020.11:g.51435192G>C
• NG_087547.1:g.526G>C
• NM_001136021.3:c.1968C>G
• NM_001258292.2:c.1968C>G
• NM_001258294.2:c.1371C>G
• NM_001258295.2:c.1371C>G
• NM_001258296.2:c.1371C>G
• NM_001258297.2:c.1371C>G
• NM_012340.5:c.2028C>GMANE SELECT
• NM_173091.4:c.2028C>G
• NP_001129493.1:p.His656Gln
• NP_001245221.1:p.His656Gln
• NP_001245223.1:p.His457Gln
• NP_001245224.1:p.His457Gln
• NP_001245225.1:p.His457Gln
• NP_001245226.1:p.His457Gln
• NP_036472.2:p.His676Gln
• NP_775114.1:p.His676Gln
• NC_000020.10:g.50051729G>C
• NM_173091.2:c.2028C>G

This HGVS expression did not pass validation

Protein change:

H457Q

Molecular consequence:

• NM_001136021.3:c.1968C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258292.2:c.1968C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258294.2:c.1371C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258295.2:c.1371C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258296.2:c.1371C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258297.2:c.1371C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_012340.5:c.2028C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173091.4:c.2028C>G - missense variant - [Sequence Ontology: SO:0001583]