Canonical Allele Identifier: CA202171621
Community Standard Title: NM_001040177.3(AKR1E2):c.681-252T>C
Gene: AKR1E2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.4841533T>C , CM000672.2:g.4841533T>C GRCh38
NC_000010.10:g.4883725T>C , CM000672.1:g.4883725T>C GRCh37
NC_000010.9:g.4873725T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001040177.3:c.681-252T>C MANE Select NP_001035267.1:n.681-252T>C
ENST00000298375.12:c.681-252T>C MANE Select ENSP00000298375.7:n.681-252T>C
NM_001040177.2:c.681-252T>C NP_001035267.1:n.681-252T>C
NM_001271021.1:c.583-888T>C NP_001257950.1:n.583-888T>C
NM_001271021.2:c.583-888T>C NP_001257950.1:n.583-888T>C
NM_001271025.1:c.460-888T>C NP_001257954.1:n.460-888T>C
NM_001271025.2:c.460-888T>C NP_001257954.1:n.460-888T>C
NR_073125.1:n.829-252T>C
NR_073125.2:n.799-252T>C
NR_073126.1:n.743-252T>C
NR_073127.1:n.731-888T>C
NR_073127.2:n.701-888T>C
ENST00000298375.11:c.681-252T>C ENSP00000298375.7:n.681-252T>C
ENST00000334019.4:c.583-888T>C ENSP00000335034.4:n.583-888T>C
ENST00000345253.9:c.460-888T>C ENSP00000335603.5:n.460-888T>C
ENST00000441590.5:n.371-888T>C
ENST00000463345.5:c.681-252T>C ENSP00000436794.1:n.681-252T>C
ENST00000474119.5:c.369-252T>C ENSP00000434437.1:n.369-252T>C
ENST00000487985.1:c.44-252T>C
ENST00000525281.5:n.536-888T>C
ENST00000525572.1:c.434-252T>C
ENST00000532248.5:c.583-888T>C ENSP00000432947.1:n.583-888T>C
XM_006717514.2:c.466-888T>C XP_006717577.1:n.466-888T>C
XM_011519715.1:c.744-252T>C XP_011518017.1:n.744-252T>C
XM_011519715.2:c.744-252T>C XP_011518017.1:n.744-252T>C
XM_011519716.1:c.744-252T>C XP_011518018.1:n.744-252T>C
XM_011519717.1:c.627-252T>C XP_011518019.1:n.627-252T>C
XM_011519718.1:c.744-252T>C XP_011518020.1:n.744-252T>C
XM_011519718.2:c.744-252T>C XP_011518020.1:n.744-252T>C
XM_011519719.1:c.*1203T>C XP_011518021.1:n.*1203T>C
XM_011519719.2:c.*1203T>C XP_011518021.1:n.*1203T>C
XM_011519720.1:c.744-252T>C XP_011518022.1:n.744-252T>C
XM_011519720.2:c.744-252T>C XP_011518022.1:n.744-252T>C
XM_011519721.1:c.744-252T>C XP_011518023.1:n.744-252T>C
XM_011519722.1:c.744-252T>C XP_011518024.1:n.744-252T>C
XM_011519722.2:c.744-252T>C XP_011518024.1:n.744-252T>C
XM_011519723.1:c.744-252T>C XP_011518025.1:n.744-252T>C
XM_011519724.1:c.646-888T>C XP_011518026.1:n.646-888T>C
XM_011519724.2:c.646-888T>C XP_011518026.1:n.646-888T>C
XM_011519725.1:c.744-888T>C XP_011518027.1:n.744-888T>C
XM_011519725.2:c.744-888T>C XP_011518027.1:n.744-888T>C
XM_011519726.1:c.523-888T>C XP_011518028.1:n.523-888T>C
XM_011519727.1:c.466-888T>C XP_011518029.1:n.466-888T>C
XM_011519728.1:c.369-252T>C XP_011518030.1:n.369-252T>C
XM_011519729.1:c.646-252T>C XP_011518031.1:n.646-252T>C
XM_017016743.1:c.744-252T>C XP_016872232.1:n.744-252T>C
XM_017016744.1:c.744-252T>C XP_016872233.1:n.744-252T>C
XM_017016745.1:c.369-252T>C XP_016872234.1:n.369-252T>C
XM_024448224.1:c.564-252T>C XP_024303992.1:n.564-252T>C
XM_024448225.1:c.681-252T>C XP_024303993.1:n.681-252T>C
XM_024448226.1:c.523-888T>C XP_024303994.1:n.523-888T>C
XR_001747220.1:n.1126-252T>C
XR_001747221.1:n.796-252T>C
XR_001747222.1:n.1126-252T>C
XR_001747223.1:n.1744-888T>C
XR_002957024.1:n.1025-252T>C
XR_930518.1:n.1116-252T>C
XR_930518.2:n.1125-252T>C
XR_930519.1:n.1117-252T>C
XR_930519.2:n.1126-252T>C
XR_930520.1:n.1116-252T>C
XR_930520.2:n.1125-252T>C