Canonical Allele Identifier: CA447974672
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1402517013
gnomAD v2: 5-172659866-G-A
gnomAD v4: 5-173232863-G-A
COSMIC: COSM1286608
MyVariant Identifiers: chr5:g.172659866G>A (hg19) chr5:g.173232863G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232863G>A , CM000667.2:g.173232863G>A GRCh38
NC_000005.9:g.172659866G>A , CM000667.1:g.172659866G>A GRCh37
NC_000005.8:g.172592472G>A NCBI36
NG_013340.1:g.7450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.681C>T MANE Select ENSP00000327758.4:p.Gly227=
ENST00000329198.4:c.681C>T ENSP00000327758.4:p.Gly227=
NM_001166175.1:c.*634C>T NP_001159647.1:n.*634C>T
NM_001166176.1:c.*480C>T NP_001159648.1:n.*480C>T
NM_004387.3:c.681C>T NP_004378.1:p.Gly227=
NM_004387.4:c.681C>T MANE Select NP_004378.1:p.Gly227=
NM_001166175.2:c.*634C>T NP_001159647.1:n.*634C>T
NM_001166176.2:c.*480C>T NP_001159648.1:n.*480C>T
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