Canonical Allele Identifier: CA2608066562

Gene: AKR1E2

Linked Data

• gnomAD v4: 10-4839669-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.4839669G>T , CM000672.2:g.4839669G>T	GRCh38
NC_000010.10:g.4881861G>T , CM000672.1:g.4881861G>T	GRCh37
NC_000010.9:g.4871861G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000298375.12:c.583-60G>T MANE Select	ENSP00000298375.7:n.583-60G>T
ENST00000298375.11:c.583-60G>T	ENSP00000298375.7:n.583-60G>T
ENST00000334019.4:c.582+2088G>T	ENSP00000335034.4:n.582+2088G>T
ENST00000345253.9:c.460-2752G>T	ENSP00000335603.5:n.460-2752G>T
ENST00000441590.5:n.370+2088G>T
ENST00000462718.7:n.596-60G>T
ENST00000463345.5:c.583-60G>T	ENSP00000436794.1:n.583-60G>T
ENST00000474119.5:c.271-60G>T	ENSP00000434437.1:n.271-60G>T
ENST00000525281.5:n.535+2088G>T
ENST00000525572.1:c.336-60G>T
ENST00000532248.5:c.582+2088G>T	ENSP00000432947.1:n.582+2088G>T
NM_001040177.2:c.583-60G>T	NP_001035267.1:n.583-60G>T
NM_001271021.1:c.582+2088G>T	NP_001257950.1:n.582+2088G>T
NM_001271025.1:c.460-2752G>T	NP_001257954.1:n.460-2752G>T
NR_073125.1:n.731-60G>T
NR_073126.1:n.645-60G>T
NR_073127.1:n.730+2088G>T
XM_006717514.2:c.465+2088G>T	XP_006717577.1:n.465+2088G>T
XM_011519715.1:c.646-60G>T	XP_011518017.1:n.646-60G>T
XM_011519716.1:c.646-60G>T	XP_011518018.1:n.646-60G>T
XM_011519717.1:c.529-60G>T	XP_011518019.1:n.529-60G>T
XM_011519718.1:c.646-60G>T	XP_011518020.1:n.646-60G>T
XM_011519719.1:c.646-60G>T	XP_011518021.1:n.646-60G>T
XM_011519720.1:c.646-60G>T	XP_011518022.1:n.646-60G>T
XM_011519721.1:c.646-60G>T	XP_011518023.1:n.646-60G>T
XM_011519722.1:c.646-60G>T	XP_011518024.1:n.646-60G>T
XM_011519723.1:c.646-60G>T	XP_011518025.1:n.646-60G>T
XM_011519724.1:c.645+2088G>T	XP_011518026.1:n.645+2088G>T
XM_011519725.1:c.646-60G>T	XP_011518027.1:n.646-60G>T
XM_011519726.1:c.523-2752G>T	XP_011518028.1:n.523-2752G>T
XM_011519727.1:c.465+2088G>T	XP_011518029.1:n.465+2088G>T
XM_011519728.1:c.271-60G>T	XP_011518030.1:n.271-60G>T
XM_011519729.1:c.645+2088G>T	XP_011518031.1:n.645+2088G>T
XR_930518.1:n.1018-60G>T
XR_930519.1:n.1019-60G>T
XR_930520.1:n.1018-60G>T
XM_011519715.2:c.646-60G>T	XP_011518017.1:n.646-60G>T
XM_011519718.2:c.646-60G>T	XP_011518020.1:n.646-60G>T
XM_011519719.2:c.646-60G>T	XP_011518021.1:n.646-60G>T
XM_011519720.2:c.646-60G>T	XP_011518022.1:n.646-60G>T
XM_011519722.2:c.646-60G>T	XP_011518024.1:n.646-60G>T
XM_011519724.2:c.645+2088G>T	XP_011518026.1:n.645+2088G>T
XM_011519725.2:c.646-60G>T	XP_011518027.1:n.646-60G>T
XM_017016743.1:c.646-60G>T	XP_016872232.1:n.646-60G>T
XM_017016744.1:c.646-60G>T	XP_016872233.1:n.646-60G>T
XM_017016745.1:c.271-60G>T	XP_016872234.1:n.271-60G>T
XM_024448224.1:c.466-60G>T	XP_024303992.1:n.466-60G>T
XM_024448225.1:c.583-60G>T	XP_024303993.1:n.583-60G>T
XM_024448226.1:c.523-2752G>T	XP_024303994.1:n.523-2752G>T
XR_001747220.1:n.1028-60G>T
XR_001747221.1:n.698-60G>T
XR_001747222.1:n.1028-60G>T
XR_001747223.1:n.1743+2088G>T
XR_002957024.1:n.1024+2088G>T
XR_930518.2:n.1027-60G>T
XR_930519.2:n.1028-60G>T
XR_930520.2:n.1027-60G>T
NM_001040177.3:c.583-60G>T MANE Select	NP_001035267.1:n.583-60G>T
NM_001271021.2:c.582+2088G>T	NP_001257950.1:n.582+2088G>T
NM_001271025.2:c.460-2752G>T	NP_001257954.1:n.460-2752G>T
NR_073125.2:n.701-60G>T
NR_073127.2:n.700+2088G>T