Canonical Allele Identifier: CA2768332321

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186646G>A , CM000667.2:g.128186646G>A	GRCh38
NC_000005.9:g.127522338G>A , CM000667.1:g.127522338G>A	GRCh37
NC_000005.8:g.127550237G>A	NCBI36
NG_042286.1:g.107856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*15G>A MANE Select	ENSP00000262461.2:n.*15G>A
ENST00000262461.6:c.*15G>A	ENSP00000262461.2:n.*15G>A
ENST00000343225.4:c.*15G>A	ENSP00000340878.4:n.*15G>A
ENST00000509205.5:c.*267G>A	ENSP00000427109.1:n.*267G>A
NM_001046.2:c.*15G>A	NP_001037.1:n.*15G>A
NM_001256461.1:c.*15G>A	NP_001243390.1:n.*15G>A
NR_046207.1:n.3884G>A
XM_017009771.1:c.*15G>A	XP_016865260.1:n.*15G>A
XR_001742214.1:n.3878G>A
NM_001046.3:c.*15G>A MANE Select	NP_001037.1:n.*15G>A
NM_001256461.2:c.*15G>A	NP_001243390.1:n.*15G>A
NR_046207.2:n.3909G>A