Canonical Allele Identifier: CA2675110078

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186797-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186797T>A , CM000667.2:g.128186797T>A	GRCh38
NC_000005.9:g.127522489T>A , CM000667.1:g.127522489T>A	GRCh37
NC_000005.8:g.127550388T>A	NCBI36
NG_042286.1:g.108007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*166T>A MANE Select	ENSP00000262461.2:n.*166T>A
ENST00000262461.6:c.*166T>A	ENSP00000262461.2:n.*166T>A
ENST00000343225.4:c.*166T>A	ENSP00000340878.4:n.*166T>A
ENST00000509205.5:c.*418T>A	ENSP00000427109.1:n.*418T>A
NM_001046.2:c.*166T>A	NP_001037.1:n.*166T>A
NM_001256461.1:c.*166T>A	NP_001243390.1:n.*166T>A
NR_046207.1:n.4035T>A
XM_017009771.1:c.*166T>A	XP_016865260.1:n.*166T>A
XR_001742214.1:n.4029T>A
NM_001046.3:c.*166T>A MANE Select	NP_001037.1:n.*166T>A
NM_001256461.2:c.*166T>A	NP_001243390.1:n.*166T>A
NR_046207.2:n.4060T>A