Canonical Allele Identifier: CA128905
Gene: AKR1C2 HGNC NCBI
AKR1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30064
ClinVar RCV Id: RCV000022967
dbSNP Id: rs387906750

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5001531T>C , CM000672.2:g.5001531T>C GRCh38
NC_000010.10:g.5043723T>C , CM000672.1:g.5043723T>C GRCh37
NC_000010.9:g.5033723T>C NCBI36
NG_031852.1:g.21485A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380753.9:c.235A>G (AKR1C2) MANE Select ENSP00000370129.4:p.Ile79Val
ENST00000380753.8:c.235A>G (AKR1C2) ENSP00000370129.4:p.Ile79Val
ENST00000407674.5:c.235A>G (AKR1C2) ENSP00000385221.2:p.Ile79Val
ENST00000421196.7:c.235A>G (AKR1C2) ENSP00000392694.2:p.Ile79Val
ENST00000434459.6:c.932+25595T>C (AKR1C1) ENSP00000412248.3:n.932+25595T>C
ENST00000455190.2:c.235A>G (AKR1C2) ENSP00000408440.1:p.Ile79Val
ENST00000460124.5:n.423A>G (AKR1C2)
ENST00000604184.1:n.261A>G (AKR1C2)
ENST00000604507.5:c.235A>G (AKR1C2) ENSP00000474566.1:p.Ile79Val
NM_001135241.2:c.235A>G (AKR1C2) NP_001128713.1:p.Ile79Val
NM_001354.5:c.235A>G (AKR1C2) NP_001345.1:p.Ile79Val
NM_205845.2:c.235A>G (AKR1C2) NP_995317.1:p.Ile79Val
XM_011519342.1:c.235A>G (AKR1C2) XP_011517644.1:p.Ile79Val
NM_001321027.1:c.235A>G (AKR1C2) NP_001307956.1:p.Ile79Val
NM_001135241.3:c.235A>G (AKR1C2) NP_001128713.1:p.Ile79Val
NM_001321027.2:c.235A>G (AKR1C2) NP_001307956.1:p.Ile79Val
NM_001354.6:c.235A>G (AKR1C2) NP_001345.1:p.Ile79Val
NM_001393392.1:c.235A>G (AKR1C2) MANE Select NP_001380321.1:p.Ile79Val
NM_205845.3:c.235A>G (AKR1C2) NP_995317.1:p.Ile79Val