Canonical Allele Identifier: CA2709959206

Gene: SLC12A2

Linked Data

• dbSNP Id: rs2126763684

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186645T>C , CM000667.2:g.128186645T>C	GRCh38
NC_000005.9:g.127522337T>C , CM000667.1:g.127522337T>C	GRCh37
NC_000005.8:g.127550236T>C	NCBI36
NG_042286.1:g.107855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*14T>C MANE Select	ENSP00000262461.2:n.*14T>C
ENST00000262461.6:c.*14T>C	ENSP00000262461.2:n.*14T>C
ENST00000343225.4:c.*14T>C	ENSP00000340878.4:n.*14T>C
ENST00000509205.5:c.*266T>C	ENSP00000427109.1:n.*266T>C
NM_001046.2:c.*14T>C	NP_001037.1:n.*14T>C
NM_001256461.1:c.*14T>C	NP_001243390.1:n.*14T>C
NR_046207.1:n.3883T>C
XM_017009771.1:c.*14T>C	XP_016865260.1:n.*14T>C
XR_001742214.1:n.3877T>C
NM_001046.3:c.*14T>C MANE Select	NP_001037.1:n.*14T>C
NM_001256461.2:c.*14T>C	NP_001243390.1:n.*14T>C
NR_046207.2:n.3908T>C