Canonical Allele Identifier: CA803610321

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1181739636
• MyVariant Identifiers: chr5:g.127522365T>C (hg19) ; chr5:g.128186673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186673T>C , CM000667.2:g.128186673T>C	GRCh38
NC_000005.9:g.127522365T>C , CM000667.1:g.127522365T>C	GRCh37
NC_000005.8:g.127550264T>C	NCBI36
NG_042286.1:g.107883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*42T>C MANE Select	ENSP00000262461.2:n.*42T>C
ENST00000262461.6:c.*42T>C	ENSP00000262461.2:n.*42T>C
ENST00000343225.4:c.*42T>C	ENSP00000340878.4:n.*42T>C
ENST00000509205.5:c.*294T>C	ENSP00000427109.1:n.*294T>C
NM_001046.2:c.*42T>C	NP_001037.1:n.*42T>C
NM_001256461.1:c.*42T>C	NP_001243390.1:n.*42T>C
NR_046207.1:n.3911T>C
XM_017009771.1:c.*42T>C	XP_016865260.1:n.*42T>C
XR_001742214.1:n.3905T>C
NM_001046.3:c.*42T>C MANE Select	NP_001037.1:n.*42T>C
NM_001256461.2:c.*42T>C	NP_001243390.1:n.*42T>C
NR_046207.2:n.3936T>C