Canonical Allele Identifier: CA3393736

Gene: SLC12A2

Linked Data

• dbSNP Id: rs762046751
• ExAC: 5:127522237 G / A
• gnomAD v2: 5-127522237-G-A
• gnomAD v4: 5-128186545-G-A
• MyVariant Identifiers: chr5:g.127522237G>A (hg19) ; chr5:g.128186545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186545G>A , CM000667.2:g.128186545G>A	GRCh38
NC_000005.9:g.127522237G>A , CM000667.1:g.127522237G>A	GRCh37
NC_000005.8:g.127550136G>A	NCBI36
NG_042286.1:g.107755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3553G>A MANE Select	ENSP00000262461.2:p.Ala1185Thr
ENST00000262461.6:c.3553G>A	ENSP00000262461.2:p.Ala1185Thr
ENST00000343225.4:c.3505G>A	ENSP00000340878.4:p.Ala1169Thr
ENST00000509205.5:c.*166G>A	ENSP00000427109.1:n.*166G>A
NM_001046.2:c.3553G>A	NP_001037.1:p.Ala1185Thr
NM_001256461.1:c.3505G>A	NP_001243390.1:p.Ala1169Thr
NR_046207.1:n.3783G>A
XM_017009771.1:c.1795G>A	XP_016865260.1:p.Ala599Thr
XR_001742214.1:n.3777G>A
NM_001046.3:c.3553G>A MANE Select	NP_001037.1:p.Ala1185Thr
NM_001256461.2:c.3505G>A	NP_001243390.1:p.Ala1169Thr
NR_046207.2:n.3808G>A