Canonical Allele Identifier: CA446302749

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1763877522
• gnomAD v3: 5-128186577-A-G
• gnomAD v4: 5-128186577-A-G
• MyVariant Identifiers: chr5:g.127522269A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186577A>G , CM000667.2:g.128186577A>G	GRCh38
NC_000005.9:g.127522269A>G , CM000667.1:g.127522269A>G	GRCh37
NC_000005.8:g.127550168A>G	NCBI36
NG_042286.1:g.107787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3585A>G MANE Select	ENSP00000262461.2:p.Pro1195=
ENST00000262461.6:c.3585A>G	ENSP00000262461.2:p.Pro1195=
ENST00000343225.4:c.3537A>G	ENSP00000340878.4:p.Pro1179=
ENST00000509205.5:c.*198A>G	ENSP00000427109.1:n.*198A>G
NM_001046.2:c.3585A>G	NP_001037.1:p.Pro1195=
NM_001256461.1:c.3537A>G	NP_001243390.1:p.Pro1179=
NR_046207.1:n.3815A>G
XM_017009771.1:c.1827A>G	XP_016865260.1:p.Pro609=
XR_001742214.1:n.3809A>G
NM_001046.3:c.3585A>G MANE Select	NP_001037.1:p.Pro1195=
NM_001256461.2:c.3537A>G	NP_001243390.1:p.Pro1179=
NR_046207.2:n.3840A>G