ClinVar

NM_012340.5(NFATC2):c.*71T>G

Gene:

NFATC2:nuclear factor of activated T cells 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.2

Genomic location:

• Chr20: 51391425 (on Assembly GRCh38)
• Chr20: 50007962 (on Assembly GRCh37)

Preferred name:

NM_012340.5(NFATC2):c.*71T>G

HGVS:

• NC_000020.11:g.51391425A>C
• NM_001136021.3:c.*71T>G
• NM_001258292.2:c.2689T>G
• NM_001258294.2:c.*71T>G
• NM_001258295.2:c.2092T>G
• NM_001258296.2:c.*71T>G
• NM_001258297.2:c.2092T>G
• NM_012340.5:c.*71T>GMANE SELECT
• NM_173091.4:c.2749T>G
• NP_001245221.1:p.Ser897Ala
• NP_001245224.1:p.Ser698Ala
• NP_001245226.1:p.Ser698Ala
• NP_775114.1:p.Ser917Ala
• NC_000020.10:g.50007962A>C

This HGVS expression did not pass validation

Protein change:

S698A

Links:

dbSNP: rs377609235

NCBI 1000 Genomes Browser:

rs377609235

Molecular consequence:

• NM_001136021.3:c.*71T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001258294.2:c.*71T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001258296.2:c.*71T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_012340.5:c.*71T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001258292.2:c.2689T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258295.2:c.2092T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258297.2:c.2092T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173091.4:c.2749T>G - missense variant - [Sequence Ontology: SO:0001583]