Canonical Allele Identifier: CA2608067740
Gene: AKR1E2 HGNC NCBI

Linked Data

dbSNP Id: rs2131577111
gnomAD v4: 10-4847054-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4847054C>T , CM000672.2:g.4847054C>T GRCh38
NC_000010.10:g.4889246C>T , CM000672.1:g.4889246C>T GRCh37
NC_000010.9:g.4879246C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000298375.12:c.838-94C>T MANE Select ENSP00000298375.7:n.838-94C>T
ENST00000298375.11:c.838-94C>T ENSP00000298375.7:n.838-94C>T
ENST00000334019.4:c.667-94C>T ENSP00000335034.4:n.667-94C>T
ENST00000345253.9:c.544-94C>T ENSP00000335603.5:n.544-94C>T
ENST00000463345.5:c.838-94C>T ENSP00000436794.1:n.838-94C>T
ENST00000474119.5:c.526-94C>T ENSP00000434437.1:n.526-94C>T
ENST00000487985.1:c.184-94C>T
ENST00000532248.5:c.667-94C>T ENSP00000432947.1:n.667-94C>T
NM_001040177.2:c.838-94C>T NP_001035267.1:n.838-94C>T
NM_001271021.1:c.667-94C>T NP_001257950.1:n.667-94C>T
NM_001271025.1:c.544-94C>T NP_001257954.1:n.544-94C>T
NR_073125.1:n.986-94C>T
NR_073126.1:n.900-94C>T
NR_073127.1:n.815-94C>T
XM_011519715.1:c.901-94C>T XP_011518017.1:n.901-94C>T
XM_011519717.1:c.784-94C>T XP_011518019.1:n.784-94C>T
XM_011519718.1:c.901-434C>T XP_011518020.1:n.901-434C>T
XM_011519720.1:c.*14-94C>T XP_011518022.1:n.*14-94C>T
XM_011519722.1:c.*14-434C>T XP_011518024.1:n.*14-434C>T
XM_011519723.1:c.*13+4550C>T XP_011518025.1:n.*13+4550C>T
XM_011519724.1:c.730-94C>T XP_011518026.1:n.730-94C>T
XM_011519726.1:c.607-94C>T XP_011518028.1:n.607-94C>T
XM_011519727.1:c.550-94C>T XP_011518029.1:n.550-94C>T
XM_011519728.1:c.526-94C>T XP_011518030.1:n.526-94C>T
XR_930518.1:n.1273-94C>T
XR_930519.1:n.1393-94C>T
XR_930520.1:n.1256-94C>T
XM_011519715.2:c.901-94C>T XP_011518017.1:n.901-94C>T
XM_011519718.2:c.901-434C>T XP_011518020.1:n.901-434C>T
XM_011519720.2:c.*14-94C>T XP_011518022.1:n.*14-94C>T
XM_011519722.2:c.*14-434C>T XP_011518024.1:n.*14-434C>T
XM_011519724.2:c.730-94C>T XP_011518026.1:n.730-94C>T
XM_017016744.1:c.*13+4550C>T XP_016872233.1:n.*13+4550C>T
XM_017016745.1:c.526-434C>T XP_016872234.1:n.526-434C>T
XM_024448224.1:c.721-94C>T XP_024303992.1:n.721-94C>T
XM_024448225.1:c.838-434C>T XP_024303993.1:n.838-434C>T
XM_024448226.1:c.607-434C>T XP_024303994.1:n.607-434C>T
XR_001747220.1:n.1283-94C>T
XR_001747221.1:n.1072-94C>T
XR_001747222.1:n.1385-94C>T
XR_001747223.1:n.1947-94C>T
XR_002957024.1:n.1182-94C>T
XR_930518.2:n.1282-94C>T
XR_930519.2:n.1402-94C>T
XR_930520.2:n.1265-94C>T
NM_001040177.3:c.838-94C>T MANE Select NP_001035267.1:n.838-94C>T
NM_001271021.2:c.667-94C>T NP_001257950.1:n.667-94C>T
NM_001271025.2:c.544-94C>T NP_001257954.1:n.544-94C>T
NR_073125.2:n.956-94C>T
NR_073127.2:n.785-94C>T