Canonical Allele Identifier: CA3393747

Gene: SLC12A2

Linked Data

• dbSNP Id: rs751447827
• ExAC: 5:127522356 G / C
• gnomAD v2: 5-127522356-G-C
• gnomAD v3: 5-128186664-G-C
• gnomAD v4: 5-128186664-G-C
• MyVariant Identifiers: chr5:g.127522356G>C (hg19) ; chr5:g.128186664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186664G>C , CM000667.2:g.128186664G>C	GRCh38
NC_000005.9:g.127522356G>C , CM000667.1:g.127522356G>C	GRCh37
NC_000005.8:g.127550255G>C	NCBI36
NG_042286.1:g.107874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*33G>C MANE Select	ENSP00000262461.2:n.*33G>C
ENST00000262461.6:c.*33G>C	ENSP00000262461.2:n.*33G>C
ENST00000343225.4:c.*33G>C	ENSP00000340878.4:n.*33G>C
ENST00000509205.5:c.*285G>C	ENSP00000427109.1:n.*285G>C
NM_001046.2:c.*33G>C	NP_001037.1:n.*33G>C
NM_001256461.1:c.*33G>C	NP_001243390.1:n.*33G>C
NR_046207.1:n.3902G>C
XM_017009771.1:c.*33G>C	XP_016865260.1:n.*33G>C
XR_001742214.1:n.3896G>C
NM_001046.3:c.*33G>C MANE Select	NP_001037.1:n.*33G>C
NM_001256461.2:c.*33G>C	NP_001243390.1:n.*33G>C
NR_046207.2:n.3927G>C