Canonical Allele Identifier: CA2626630

Gene: SLCO2A1

Linked Data

• ClinVar Variation Id: 225478
• ClinVar RCV Id: RCV000490351 ; RCV001389437
• dbSNP Id: rs765249238
• ExAC: 3:133667736 C / T
• gnomAD v2: 3-133667736-C-T
• gnomAD v3: 3-133948892-C-T
• gnomAD v4: 3-133948892-C-T
• MyVariant Identifiers: chr3:g.133667736C>T (hg19) ; chr3:g.133948892C>T (hg38)
• PubMed: PMID:22197487 ; PMID:24153155

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133948892C>T , CM000665.2:g.133948892C>T	GRCh38
NC_000003.11:g.133667736C>T , CM000665.1:g.133667736C>T	GRCh37
NC_000003.10:g.135150426C>T	NCBI36
NG_031964.2:g.108293G>A
NG_031964.3:g.108293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310926.11:c.940+1G>A MANE Select	ENSP00000311291.4:n.940+1G>A
ENST00000310926.8:c.940+1G>A	ENSP00000311291.4:n.940+1G>A
ENST00000462770.5:n.521-192G>A
ENST00000477061.1:n.324+1G>A
ENST00000481359.3:c.940+1G>A	ENSP00000420028.3:n.940+1G>A
ENST00000493729.5:c.712+1G>A	ENSP00000418893.1:n.712+1G>A
NM_005630.2:c.940+1G>A	NP_005621.2:n.940+1G>A
XM_011513090.1:c.940+1G>A	XP_011511392.1:n.940+1G>A
XM_017007077.1:c.436+1G>A	XP_016862566.1:n.436+1G>A
XM_024453721.1:c.940+1G>A	XP_024309489.1:n.940+1G>A
NM_005630.3:c.940+1G>A MANE Select	NP_005621.2:n.940+1G>A