ClinVar

NM_012340.5(NFATC2):c.2180C>T (p.Pro727Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.2

Genomic location:

• Chr20: 51432609 (on Assembly GRCh38)
• Chr20: 50049146 (on Assembly GRCh37)

Preferred name:

NM_012340.5(NFATC2):c.2180C>T (p.Pro727Leu)

HGVS:

• NC_000020.11:g.51432609G>A
• NM_001136021.3:c.2120C>T
• NM_001258292.2:c.2120C>T
• NM_001258294.2:c.1523C>T
• NM_001258295.2:c.1523C>T
• NM_001258296.2:c.1523C>T
• NM_001258297.2:c.1523C>T
• NM_012340.5:c.2180C>TMANE SELECT
• NM_173091.4:c.2180C>T
• NP_001129493.1:p.Pro707Leu
• NP_001245221.1:p.Pro707Leu
• NP_001245223.1:p.Pro508Leu
• NP_001245224.1:p.Pro508Leu
• NP_001245225.1:p.Pro508Leu
• NP_001245226.1:p.Pro508Leu
• NP_036472.2:p.Pro727Leu
• NP_775114.1:p.Pro727Leu
• NC_000020.10:g.50049146G>A
• NM_173091.2:c.2180C>T

This HGVS expression did not pass validation

Protein change:

P508L

Molecular consequence:

• NM_001136021.3:c.2120C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258292.2:c.2120C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258294.2:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258295.2:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258296.2:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258297.2:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012340.5:c.2180C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173091.4:c.2180C>T - missense variant - [Sequence Ontology: SO:0001583]