Canonical Allele Identifier: CA3393738

Gene: SLC12A2

Linked Data

• ClinVar Variation Id: 1679711
• ClinVar RCV Id: RCV002227735 ; RCV003093902
• dbSNP Id: rs768256710
• ExAC: 5:127522250 C / T
• gnomAD v2: 5-127522250-C-T
• gnomAD v3: 5-128186558-C-T
• gnomAD v4: 5-128186558-C-T
• MyVariant Identifiers: chr5:g.127522250C>T (hg19) ; chr5:g.128186558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186558C>T , CM000667.2:g.128186558C>T	GRCh38
NC_000005.9:g.127522250C>T , CM000667.1:g.127522250C>T	GRCh37
NC_000005.8:g.127550149C>T	NCBI36
NG_042286.1:g.107768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.3566C>T MANE Select	ENSP00000262461.2:p.Ala1189Val
ENST00000262461.6:c.3566C>T	ENSP00000262461.2:p.Ala1189Val
ENST00000343225.4:c.3518C>T	ENSP00000340878.4:p.Ala1173Val
ENST00000509205.5:c.*179C>T	ENSP00000427109.1:n.*179C>T
NM_001046.2:c.3566C>T	NP_001037.1:p.Ala1189Val
NM_001256461.1:c.3518C>T	NP_001243390.1:p.Ala1173Val
NR_046207.1:n.3796C>T
XM_017009771.1:c.1808C>T	XP_016865260.1:p.Ala603Val
XR_001742214.1:n.3790C>T
NM_001046.3:c.3566C>T MANE Select	NP_001037.1:p.Ala1189Val
NM_001256461.2:c.3518C>T	NP_001243390.1:p.Ala1173Val
NR_046207.2:n.3821C>T