Canonical Allele Identifier: CA378772049

Gene: NKX6-2

Linked Data

• ClinVar Variation Id: 430622
• ClinVar RCV Id: RCV000494722
• dbSNP Id: rs1131692047
• gnomAD v4: 10-132785828-T-A
• MyVariant Identifiers: chr10:g.134599332T>A (hg19) ; chr10:g.132785828T>A (hg38)
• PubMed: PMID:28575651

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.132785828T>A , CM000672.2:g.132785828T>A	GRCh38
NC_000010.10:g.134599332T>A , CM000672.1:g.134599332T>A	GRCh37
NC_000010.9:g.134449322T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368592.8:c.121A>T MANE Select	ENSP00000357581.5:p.Lys41Ter
ENST00000368592.7:c.121A>T	ENSP00000357581.5:p.Lys41Ter
NM_177400.2:c.121A>T	NP_796374.1:p.Lys41Ter
XM_017016789.2:c.121A>T	XP_016872278.1:p.Lys41Ter
NM_177400.3:c.121A>T MANE Select	NP_796374.2:p.Lys41Ter