Canonical Allele Identifier: CA362161434

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 2913917
• ClinVar RCV Id: RCV003620397
• MyVariant Identifiers: chr5:g.172659898T>C (hg19) ; chr5:g.173232895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232895T>C , CM000667.2:g.173232895T>C	GRCh38
NC_000005.9:g.172659898T>C , CM000667.1:g.172659898T>C	GRCh37
NC_000005.8:g.172592504T>C	NCBI36
NG_013340.1:g.7418A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.649A>G MANE Select	ENSP00000327758.4:p.Arg217Gly
ENST00000329198.4:c.649A>G	ENSP00000327758.4:p.Arg217Gly
ENST00000424406.2:c.*602A>G	ENSP00000395378.2:n.*602A>G
ENST00000521848.1:c.*448A>G	ENSP00000427906.1:n.*448A>G
NM_001166175.1:c.*602A>G	NP_001159647.1:n.*602A>G
NM_001166176.1:c.*448A>G	NP_001159648.1:n.*448A>G
NM_004387.3:c.649A>G	NP_004378.1:p.Arg217Gly
NM_004387.4:c.649A>G MANE Select	NP_004378.1:p.Arg217Gly
NM_001166175.2:c.*602A>G	NP_001159647.1:n.*602A>G
NM_001166176.2:c.*448A>G	NP_001159648.1:n.*448A>G