Canonical Allele Identifier: CA1081359537

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1763882972
• gnomAD v3: 5-128186767-A-G
• gnomAD v4: 5-128186767-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186767A>G , CM000667.2:g.128186767A>G	GRCh38
NC_000005.9:g.127522459A>G , CM000667.1:g.127522459A>G	GRCh37
NC_000005.8:g.127550358A>G	NCBI36
NG_042286.1:g.107977A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262461.7:c.*136A>G MANE Select	ENSP00000262461.2:n.*136A>G
ENST00000262461.6:c.*136A>G	ENSP00000262461.2:n.*136A>G
ENST00000343225.4:c.*136A>G	ENSP00000340878.4:n.*136A>G
ENST00000509205.5:c.*388A>G	ENSP00000427109.1:n.*388A>G
NM_001046.2:c.*136A>G	NP_001037.1:n.*136A>G
NM_001256461.1:c.*136A>G	NP_001243390.1:n.*136A>G
NR_046207.1:n.4005A>G
XM_017009771.1:c.*136A>G	XP_016865260.1:n.*136A>G
XR_001742214.1:n.3999A>G
NM_001046.3:c.*136A>G MANE Select	NP_001037.1:n.*136A>G
NM_001256461.2:c.*136A>G	NP_001243390.1:n.*136A>G
NR_046207.2:n.4030A>G