Canonical Allele Identifier: CA6188232
Gene: SLCO2B1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.75172532G>A
GRCh37 chr11:g.74883577G>A
Revel Score:
ENST00000289575 (MANE Select) 0.026
ENST00000341411 0.026
ENST00000532236 0.026
ENST00000531756 0.026
ENST00000525650 0.026
ENST00000454962 0.026
ENST00000428359 0.026
gnomAD v2:
11:74883577 G / A
gnomAD v3:
11:75172532 G / A
gnomAD v4:
chr11-75172532-G-A
Joint Max Group AF 0.3838348 (AMR)
Genomes Max Group AF 0.32232864 (EAS)
Exomes Max Group AF 0.41782261 (AMR)
ClinVar RCV:
RCV002291808
ClinVar Variation:
1687047
dbSNP:
12422149
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75172532G>A , CM000673.2:g.75172532G>A GRCh38
NC_000011.9:g.74883577G>A , CM000673.1:g.74883577G>A GRCh37
NC_000011.8:g.74561225G>A NCBI36
NG_027921.1:g.26546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289575.10:c.935G>A MANE Select ENSP00000289575.5:p.Arg312Gln
ENST00000289575.9:c.935G>A ENSP00000289575.5:p.Arg312Gln
ENST00000428359.6:c.869G>A ENSP00000388912.2:p.Arg290Gln
ENST00000454962.6:c.254G>A ENSP00000389653.2:p.Arg85Gln
ENST00000525650.5:c.503G>A ENSP00000436324.1:p.Arg168Gln
ENST00000526660.5:n.447G>A
ENST00000531756.5:n.482G>A
ENST00000532236.5:c.587G>A ENSP00000434112.1:p.Arg196Gln
NM_001145211.2:c.869G>A NP_001138683.1:p.Arg290Gln
NM_001145212.2:c.503G>A NP_001138684.1:p.Arg168Gln
NM_007256.4:c.935G>A NP_009187.1:p.Arg312Gln
XM_017017157.1:c.941G>A XP_016872646.1:p.Arg314Gln
NM_001145211.3:c.869G>A NP_001138683.1:p.Arg290Gln
NM_001145212.3:c.503G>A NP_001138684.1:p.Arg168Gln
NM_007256.5:c.935G>A MANE Select NP_009187.1:p.Arg312Gln
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