Canonical Allele Identifier: CA3393742

Gene: SLC12A2

Linked Data

• dbSNP Id: rs755110530
• ExAC: 5:127522270 C / A
• gnomAD v2: 5-127522270-C-A
• gnomAD v4: 5-128186578-C-A
• MyVariant Identifiers: chr5:g.127522270C>A (hg19) ; chr5:g.128186578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186578C>A , CM000667.2:g.128186578C>A	GRCh38
NC_000005.9:g.127522270C>A , CM000667.1:g.127522270C>A	GRCh37
NC_000005.8:g.127550169C>A	NCBI36
NG_042286.1:g.107788C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3586C>A MANE Select	ENSP00000262461.2:p.Pro1196Thr
ENST00000262461.6:c.3586C>A	ENSP00000262461.2:p.Pro1196Thr
ENST00000343225.4:c.3538C>A	ENSP00000340878.4:p.Pro1180Thr
ENST00000509205.5:c.*199C>A	ENSP00000427109.1:n.*199C>A
NM_001046.2:c.3586C>A	NP_001037.1:p.Pro1196Thr
NM_001256461.1:c.3538C>A	NP_001243390.1:p.Pro1180Thr
NR_046207.1:n.3816C>A
XM_017009771.1:c.1828C>A	XP_016865260.1:p.Pro610Thr
XR_001742214.1:n.3810C>A
NM_001046.3:c.3586C>A MANE Select	NP_001037.1:p.Pro1196Thr
NM_001256461.2:c.3538C>A	NP_001243390.1:p.Pro1180Thr
NR_046207.2:n.3841C>A