Canonical Allele Identifier: CA2675110179

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186882-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186882C>A , CM000667.2:g.128186882C>A	GRCh38
NC_000005.9:g.127522574C>A , CM000667.1:g.127522574C>A	GRCh37
NC_000005.8:g.127550473C>A	NCBI36
NG_042286.1:g.108092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*251C>A MANE Select	ENSP00000262461.2:n.*251C>A
ENST00000262461.6:c.*251C>A	ENSP00000262461.2:n.*251C>A
ENST00000343225.4:c.*251C>A	ENSP00000340878.4:n.*251C>A
ENST00000509205.5:c.*503C>A	ENSP00000427109.1:n.*503C>A
NM_001046.2:c.*251C>A	NP_001037.1:n.*251C>A
NM_001256461.1:c.*251C>A	NP_001243390.1:n.*251C>A
NR_046207.1:n.4120C>A
XM_017009771.1:c.*251C>A	XP_016865260.1:n.*251C>A
XR_001742214.1:n.4114C>A
NM_001046.3:c.*251C>A MANE Select	NP_001037.1:n.*251C>A
NM_001256461.2:c.*251C>A	NP_001243390.1:n.*251C>A
NR_046207.2:n.4145C>A