Canonical Allele Identifier: CA2626315

Gene: SLCO2A1

Linked Data

• ClinVar Variation Id: 225477
• ClinVar RCV Id: RCV000490280 ; RCV002517444 ; RCV001527663
• dbSNP Id: rs776813259
• ExAC: 3:133654625 G / A
• gnomAD v2: 3-133654625-G-A
• gnomAD v3: 3-133935781-G-A
• gnomAD v4: 3-133935781-G-A
• MyVariant Identifiers: chr3:g.133654625G>A (hg19) ; chr3:g.133935781G>A (hg38)
• PubMed: PMID:24153155

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133935781G>A , CM000665.2:g.133935781G>A	GRCh38
NC_000003.11:g.133654625G>A , CM000665.1:g.133654625G>A	GRCh37
NC_000003.10:g.135137315G>A	NCBI36
NG_031964.2:g.121404C>T
NG_031964.3:g.121404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310926.11:c.1807C>T MANE Select	ENSP00000311291.4:p.Arg603Ter
ENST00000310926.8:c.1807C>T	ENSP00000311291.4:p.Arg603Ter
ENST00000481359.3:c.*369C>T	ENSP00000420028.3:n.*369C>T
ENST00000493729.5:c.1579C>T	ENSP00000418893.1:p.Arg527Ter
NM_005630.2:c.1807C>T	NP_005621.2:p.Arg603Ter
XM_017007077.1:c.1303C>T	XP_016862566.1:p.Arg435Ter
NM_005630.3:c.1807C>T MANE Select	NP_005621.2:p.Arg603Ter