Canonical Allele Identifier: CA16378153
Community Standard Title: NM_001393392.1(AKR1C2):c.571-92C>G
Gene: AKR1C2 HGNC NCBI
AKR1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4995957G>C , CM000672.2:g.4995957G>C GRCh38
NC_000010.10:g.5038149G>C , CM000672.1:g.5038149G>C GRCh37
NC_000010.9:g.5028149G>C NCBI36
NG_031852.1:g.27059C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001393392.1:c.571-92C>G (AKR1C2) MANE Select NP_001380321.1:n.571-92C>G
ENST00000380753.9:c.571-92C>G (AKR1C2) MANE Select ENSP00000370129.4:n.571-92C>G
NM_001321027.1:c.493-92C>G (AKR1C2) NP_001307956.1:n.493-92C>G
NM_001321027.2:c.493-92C>G (AKR1C2) NP_001307956.1:n.493-92C>G
NM_001354.5:c.571-92C>G (AKR1C2) NP_001345.1:n.571-92C>G
NM_001354.6:c.571-92C>G (AKR1C2) NP_001345.1:n.571-92C>G
NM_205845.2:c.571-92C>G (AKR1C2) NP_995317.1:n.571-92C>G
NM_205845.3:c.571-92C>G (AKR1C2) NP_995317.1:n.571-92C>G
ENST00000380753.8:c.571-92C>G (AKR1C2) ENSP00000370129.4:n.571-92C>G
ENST00000407674.5:c.571-92C>G (AKR1C2) ENSP00000385221.2:n.571-92C>G
ENST00000421196.7:c.493-92C>G (AKR1C2) ENSP00000392694.2:n.493-92C>G
ENST00000434459.6:c.932+20021G>C (AKR1C1) ENSP00000412248.3:n.932+20021G>C
ENST00000460124.5:n.2031-92C>G (AKR1C2)
ENST00000604507.5:c.571-92C>G (AKR1C2) ENSP00000474566.1:n.571-92C>G
XM_011519342.1:c.493-92C>G (AKR1C2) XP_011517644.1:n.493-92C>G
XR_001747340.1:n.86G>C
XR_930600.1:n.178-80G>C
XR_930601.1:n.178-80G>C