Canonical Allele Identifier: CA2626753

Gene: SLCO2A1

Linked Data

• ClinVar Variation Id: 438675
• ClinVar RCV Id: RCV000505666 ; RCV001527659 ; RCV002527331
• dbSNP Id: rs774795340
• ExAC: 3:133672567 C / T
• gnomAD v4: 3-133953723-C-T
• MyVariant Identifiers: chr3:g.133672567C>T (hg19) ; chr3:g.133953723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133953723C>T , CM000665.2:g.133953723C>T	GRCh38
NC_000003.11:g.133672567C>T , CM000665.1:g.133672567C>T	GRCh37
NC_000003.10:g.135155257C>T	NCBI36
NG_031964.2:g.103462G>A
NG_031964.3:g.103462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310926.11:c.664G>A MANE Select	ENSP00000311291.4:p.Gly222Arg
ENST00000310926.8:c.664G>A	ENSP00000311291.4:p.Gly222Arg
ENST00000462770.5:n.521-5023G>A
ENST00000464676.5:n.926G>A
ENST00000481359.3:c.664G>A	ENSP00000420028.3:p.Gly222Arg
ENST00000493729.5:c.436G>A	ENSP00000418893.1:p.Gly146Arg
NM_005630.2:c.664G>A	NP_005621.2:p.Gly222Arg
XM_011513090.1:c.664G>A	XP_011511392.1:p.Gly222Arg
XM_017007077.1:c.160G>A	XP_016862566.1:p.Gly54Arg
XM_024453721.1:c.664G>A	XP_024309489.1:p.Gly222Arg
NM_005630.3:c.664G>A MANE Select	NP_005621.2:p.Gly222Arg