Canonical Allele Identifier: CA2675109993

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186644-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186644G>A , CM000667.2:g.128186644G>A	GRCh38
NC_000005.9:g.127522336G>A , CM000667.1:g.127522336G>A	GRCh37
NC_000005.8:g.127550235G>A	NCBI36
NG_042286.1:g.107854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*13G>A MANE Select	ENSP00000262461.2:n.*13G>A
ENST00000262461.6:c.*13G>A	ENSP00000262461.2:n.*13G>A
ENST00000343225.4:c.*13G>A	ENSP00000340878.4:n.*13G>A
ENST00000509205.5:c.*265G>A	ENSP00000427109.1:n.*265G>A
NM_001046.2:c.*13G>A	NP_001037.1:n.*13G>A
NM_001256461.1:c.*13G>A	NP_001243390.1:n.*13G>A
NR_046207.1:n.3882G>A
XM_017009771.1:c.*13G>A	XP_016865260.1:n.*13G>A
XR_001742214.1:n.3876G>A
NM_001046.3:c.*13G>A MANE Select	NP_001037.1:n.*13G>A
NM_001256461.2:c.*13G>A	NP_001243390.1:n.*13G>A
NR_046207.2:n.3907G>A