Canonical Allele Identifier: CA3393741

Gene: SLC12A2

Linked Data

• dbSNP Id: rs753908547
• ExAC: 5:127522267 C / G
• gnomAD v2: 5-127522267-C-G
• gnomAD v4: 5-128186575-C-G
• MyVariant Identifiers: chr5:g.127522267C>G (hg19) ; chr5:g.128186575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186575C>G , CM000667.2:g.128186575C>G	GRCh38
NC_000005.9:g.127522267C>G , CM000667.1:g.127522267C>G	GRCh37
NC_000005.8:g.127550166C>G	NCBI36
NG_042286.1:g.107785C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3583C>G MANE Select	ENSP00000262461.2:p.Pro1195Ala
ENST00000262461.6:c.3583C>G	ENSP00000262461.2:p.Pro1195Ala
ENST00000343225.4:c.3535C>G	ENSP00000340878.4:p.Pro1179Ala
ENST00000509205.5:c.*196C>G	ENSP00000427109.1:n.*196C>G
NM_001046.2:c.3583C>G	NP_001037.1:p.Pro1195Ala
NM_001256461.1:c.3535C>G	NP_001243390.1:p.Pro1179Ala
NR_046207.1:n.3813C>G
XM_017009771.1:c.1825C>G	XP_016865260.1:p.Pro609Ala
XR_001742214.1:n.3807C>G
NM_001046.3:c.3583C>G MANE Select	NP_001037.1:p.Pro1195Ala
NM_001256461.2:c.3535C>G	NP_001243390.1:p.Pro1179Ala
NR_046207.2:n.3838C>G