Canonical Allele Identifier: CA360743025

Gene: SLC12A2

Linked Data

• MyVariant Identifiers: chr5:g.127522246G>A (hg19) ; chr5:g.128186554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186554G>A , CM000667.2:g.128186554G>A	GRCh38
NC_000005.9:g.127522246G>A , CM000667.1:g.127522246G>A	GRCh37
NC_000005.8:g.127550145G>A	NCBI36
NG_042286.1:g.107764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3562G>A MANE Select	ENSP00000262461.2:p.Glu1188Lys
ENST00000262461.6:c.3562G>A	ENSP00000262461.2:p.Glu1188Lys
ENST00000343225.4:c.3514G>A	ENSP00000340878.4:p.Glu1172Lys
ENST00000509205.5:c.*175G>A	ENSP00000427109.1:n.*175G>A
NM_001046.2:c.3562G>A	NP_001037.1:p.Glu1188Lys
NM_001256461.1:c.3514G>A	NP_001243390.1:p.Glu1172Lys
NR_046207.1:n.3792G>A
XM_017009771.1:c.1804G>A	XP_016865260.1:p.Glu602Lys
XR_001742214.1:n.3786G>A
NM_001046.3:c.3562G>A MANE Select	NP_001037.1:p.Glu1188Lys
NM_001256461.2:c.3514G>A	NP_001243390.1:p.Glu1172Lys
NR_046207.2:n.3817G>A