Canonical Allele Identifier: CA13316139
Gene: AKR1E2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4842592T>C , CM000672.2:g.4842592T>C GRCh38
NC_000010.10:g.4884784T>C , CM000672.1:g.4884784T>C GRCh37
NC_000010.9:g.4874784T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001040177.3:c.837+88T>C MANE Select NP_001035267.1:n.837+88T>C
ENST00000298375.12:c.837+88T>C MANE Select ENSP00000298375.7:n.837+88T>C
NM_001040177.2:c.837+88T>C NP_001035267.1:n.837+88T>C
NM_001271021.1:c.666+88T>C NP_001257950.1:n.666+88T>C
NM_001271021.2:c.666+88T>C NP_001257950.1:n.666+88T>C
NM_001271025.1:c.543+88T>C NP_001257954.1:n.543+88T>C
NM_001271025.2:c.543+88T>C NP_001257954.1:n.543+88T>C
NR_073125.1:n.985+88T>C
NR_073125.2:n.955+88T>C
NR_073126.1:n.899+88T>C
NR_073127.1:n.814+88T>C
NR_073127.2:n.784+88T>C
ENST00000298375.11:c.837+88T>C ENSP00000298375.7:n.837+88T>C
ENST00000334019.4:c.666+88T>C ENSP00000335034.4:n.666+88T>C
ENST00000345253.9:c.543+88T>C ENSP00000335603.5:n.543+88T>C
ENST00000441590.5:n.454+88T>C
ENST00000463345.5:c.837+88T>C ENSP00000436794.1:n.837+88T>C
ENST00000474119.5:c.525+88T>C ENSP00000434437.1:n.525+88T>C
ENST00000487985.1:c.183+88T>C
ENST00000525281.5:n.619+88T>C
ENST00000532248.5:c.666+88T>C ENSP00000432947.1:n.666+88T>C
XM_006717514.2:c.549+88T>C XP_006717577.1:n.549+88T>C
XM_011519715.1:c.900+88T>C XP_011518017.1:n.900+88T>C
XM_011519715.2:c.900+88T>C XP_011518017.1:n.900+88T>C
XM_011519716.1:c.900+88T>C XP_011518018.1:n.900+88T>C
XM_011519717.1:c.783+88T>C XP_011518019.1:n.783+88T>C
XM_011519718.1:c.900+88T>C XP_011518020.1:n.900+88T>C
XM_011519718.2:c.900+88T>C XP_011518020.1:n.900+88T>C
XM_011519720.1:c.*13+88T>C XP_011518022.1:n.*13+88T>C
XM_011519720.2:c.*13+88T>C XP_011518022.1:n.*13+88T>C
XM_011519721.1:c.*13+88T>C XP_011518023.1:n.*13+88T>C
XM_011519722.1:c.*13+88T>C XP_011518024.1:n.*13+88T>C
XM_011519722.2:c.*13+88T>C XP_011518024.1:n.*13+88T>C
XM_011519723.1:c.*13+88T>C XP_011518025.1:n.*13+88T>C
XM_011519724.1:c.729+88T>C XP_011518026.1:n.729+88T>C
XM_011519724.2:c.729+88T>C XP_011518026.1:n.729+88T>C
XM_011519726.1:c.606+88T>C XP_011518028.1:n.606+88T>C
XM_011519727.1:c.549+88T>C XP_011518029.1:n.549+88T>C
XM_011519728.1:c.525+88T>C XP_011518030.1:n.525+88T>C
XM_017016743.1:c.900+88T>C XP_016872232.1:n.900+88T>C
XM_017016744.1:c.*13+88T>C XP_016872233.1:n.*13+88T>C
XM_017016745.1:c.525+88T>C XP_016872234.1:n.525+88T>C
XM_024448224.1:c.720+88T>C XP_024303992.1:n.720+88T>C
XM_024448225.1:c.837+88T>C XP_024303993.1:n.837+88T>C
XM_024448226.1:c.606+88T>C XP_024303994.1:n.606+88T>C
XR_001747220.1:n.1282+88T>C
XR_001747221.1:n.952+88T>C
XR_001747222.1:n.1265+88T>C
XR_001747223.1:n.1827+88T>C
XR_002957024.1:n.1181+88T>C
XR_930518.1:n.1272+88T>C
XR_930518.2:n.1281+88T>C
XR_930519.1:n.1273+88T>C
XR_930519.2:n.1282+88T>C
XR_930520.1:n.1255+88T>C
XR_930520.2:n.1264+88T>C