Canonical Allele Identifier: CA132259068

Gene: NKX2-5

Linked Data

• dbSNP Id: rs888454270
• gnomAD v2: 5-172659894-A-G
• MyVariant Identifiers: chr5:g.172659894A>G (hg19) ; chr5:g.173232891A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232891A>G , CM000667.2:g.173232891A>G	GRCh38
NC_000005.9:g.172659894A>G , CM000667.1:g.172659894A>G	GRCh37
NC_000005.8:g.172592500A>G	NCBI36
NG_013340.1:g.7422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.653T>C MANE Select	ENSP00000327758.4:p.Ile218Thr
ENST00000329198.4:c.653T>C	ENSP00000327758.4:p.Ile218Thr
NM_001166175.1:c.*606T>C	NP_001159647.1:n.*606T>C
NM_001166176.1:c.*452T>C	NP_001159648.1:n.*452T>C
NM_004387.3:c.653T>C	NP_004378.1:p.Ile218Thr
NM_004387.4:c.653T>C MANE Select	NP_004378.1:p.Ile218Thr
NM_001166175.2:c.*606T>C	NP_001159647.1:n.*606T>C
NM_001166176.2:c.*452T>C	NP_001159648.1:n.*452T>C