Canonical Allele Identifier: CA126981282

Gene: SLC12A2

Linked Data

• dbSNP Id: rs987754294
• gnomAD v2: 5-127522352-A-C
• gnomAD v4: 5-128186660-A-C
• MyVariant Identifiers: chr5:g.127522352A>C (hg19) ; chr5:g.128186660A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186660A>C , CM000667.2:g.128186660A>C	GRCh38
NC_000005.9:g.127522352A>C , CM000667.1:g.127522352A>C	GRCh37
NC_000005.8:g.127550251A>C	NCBI36
NG_042286.1:g.107870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*29A>C MANE Select	ENSP00000262461.2:n.*29A>C
ENST00000262461.6:c.*29A>C	ENSP00000262461.2:n.*29A>C
ENST00000343225.4:c.*29A>C	ENSP00000340878.4:n.*29A>C
ENST00000509205.5:c.*281A>C	ENSP00000427109.1:n.*281A>C
NM_001046.2:c.*29A>C	NP_001037.1:n.*29A>C
NM_001256461.1:c.*29A>C	NP_001243390.1:n.*29A>C
NR_046207.1:n.3898A>C
XM_017009771.1:c.*29A>C	XP_016865260.1:n.*29A>C
XR_001742214.1:n.3892A>C
NM_001046.3:c.*29A>C MANE Select	NP_001037.1:n.*29A>C
NM_001256461.2:c.*29A>C	NP_001243390.1:n.*29A>C
NR_046207.2:n.3923A>C