Canonical Allele Identifier: CA1081359540

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1763883524
• gnomAD v3: 5-128186780-T-A
• gnomAD v4: 5-128186780-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186780T>A , CM000667.2:g.128186780T>A	GRCh38
NC_000005.9:g.127522472T>A , CM000667.1:g.127522472T>A	GRCh37
NC_000005.8:g.127550371T>A	NCBI36
NG_042286.1:g.107990T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262461.7:c.*149T>A MANE Select	ENSP00000262461.2:n.*149T>A
ENST00000262461.6:c.*149T>A	ENSP00000262461.2:n.*149T>A
ENST00000343225.4:c.*149T>A	ENSP00000340878.4:n.*149T>A
ENST00000509205.5:c.*401T>A	ENSP00000427109.1:n.*401T>A
NM_001046.2:c.*149T>A	NP_001037.1:n.*149T>A
NM_001256461.1:c.*149T>A	NP_001243390.1:n.*149T>A
NR_046207.1:n.4018T>A
XM_017009771.1:c.*149T>A	XP_016865260.1:n.*149T>A
XR_001742214.1:n.4012T>A
NM_001046.3:c.*149T>A MANE Select	NP_001037.1:n.*149T>A
NM_001256461.2:c.*149T>A	NP_001243390.1:n.*149T>A
NR_046207.2:n.4043T>A