Canonical Allele Identifier: CA2604160113

Gene: SLC12A2

Linked Data

• dbSNP Id: rs2126763735
• gnomAD v3: 5-128186693-A-G
• gnomAD v4: 5-128186693-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186693A>G , CM000667.2:g.128186693A>G	GRCh38
NC_000005.9:g.127522385A>G , CM000667.1:g.127522385A>G	GRCh37
NC_000005.8:g.127550284A>G	NCBI36
NG_042286.1:g.107903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*62A>G MANE Select	ENSP00000262461.2:n.*62A>G
ENST00000262461.6:c.*62A>G	ENSP00000262461.2:n.*62A>G
ENST00000343225.4:c.*62A>G	ENSP00000340878.4:n.*62A>G
ENST00000509205.5:c.*314A>G	ENSP00000427109.1:n.*314A>G
NM_001046.2:c.*62A>G	NP_001037.1:n.*62A>G
NM_001256461.1:c.*62A>G	NP_001243390.1:n.*62A>G
NR_046207.1:n.3931A>G
XM_017009771.1:c.*62A>G	XP_016865260.1:n.*62A>G
XR_001742214.1:n.3925A>G
NM_001046.3:c.*62A>G MANE Select	NP_001037.1:n.*62A>G
NM_001256461.2:c.*62A>G	NP_001243390.1:n.*62A>G
NR_046207.2:n.3956A>G