Canonical Allele Identifier: CA354616187
Community Standard Title: NM_005630.3(SLCO2A1):c.1372G>T (p.Val458Phe)
Gene: SLCO2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133945184C>A , CM000665.2:g.133945184C>A GRCh38
NC_000003.11:g.133664028C>A , CM000665.1:g.133664028C>A GRCh37
NC_000003.10:g.135146718C>A NCBI36
NG_031964.2:g.112001G>T
NG_031964.3:g.112001G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005630.3:c.1372G>T MANE Select NP_005621.2:p.Val458Phe
ENST00000310926.11:c.1372G>T MANE Select ENSP00000311291.4:p.Val458Phe
NM_005630.2:c.1372G>T NP_005621.2:p.Val458Phe
ENST00000310926.8:c.1372G>T ENSP00000311291.4:p.Val458Phe
ENST00000462770.5:n.952G>T
ENST00000481359.3:c.1182G>T ENSP00000420028.3:p.Arg394=
ENST00000493729.5:c.1144G>T ENSP00000418893.1:p.Val382Phe
XM_011513090.1:c.1372G>T XP_011511392.1:p.Val458Phe
XM_017007077.1:c.868G>T XP_016862566.1:p.Val290Phe
XM_024453721.1:c.1372G>T XP_024309489.1:p.Val458Phe