Canonical Allele Identifier: CA375882632

Gene: AKR1E2

Linked Data

• MyVariant Identifiers: chr10:g.4881948A>C (hg19) ; chr10:g.4839756A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.4839756A>C , CM000672.2:g.4839756A>C	GRCh38
NC_000010.10:g.4881948A>C , CM000672.1:g.4881948A>C	GRCh37
NC_000010.9:g.4871948A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298375.12:c.610A>C MANE Select	ENSP00000298375.7:p.Lys204Gln
ENST00000298375.11:c.610A>C	ENSP00000298375.7:p.Lys204Gln
ENST00000334019.4:c.582+2175A>C	ENSP00000335034.4:n.582+2175A>C
ENST00000345253.9:c.460-2665A>C	ENSP00000335603.5:n.460-2665A>C
ENST00000441590.5:n.370+2175A>C
ENST00000462718.7:n.623A>C
ENST00000463345.5:c.610A>C	ENSP00000436794.1:p.Lys204Gln
ENST00000474119.5:c.298A>C	ENSP00000434437.1:p.Lys100Gln
ENST00000525281.5:n.535+2175A>C
ENST00000525572.1:c.363A>C
ENST00000532248.5:c.582+2175A>C	ENSP00000432947.1:n.582+2175A>C
NM_001040177.2:c.610A>C	NP_001035267.1:p.Lys204Gln
NM_001271021.1:c.582+2175A>C	NP_001257950.1:n.582+2175A>C
NM_001271025.1:c.460-2665A>C	NP_001257954.1:n.460-2665A>C
NR_073125.1:n.758A>C
NR_073126.1:n.672A>C
NR_073127.1:n.730+2175A>C
XM_006717514.2:c.465+2175A>C	XP_006717577.1:n.465+2175A>C
XM_011519715.1:c.673A>C	XP_011518017.1:p.Lys225Gln
XM_011519716.1:c.673A>C	XP_011518018.1:p.Lys225Gln
XM_011519717.1:c.556A>C	XP_011518019.1:p.Lys186Gln
XM_011519718.1:c.673A>C	XP_011518020.1:p.Lys225Gln
XM_011519719.1:c.673A>C	XP_011518021.1:p.Lys225Gln
XM_011519720.1:c.673A>C	XP_011518022.1:p.Lys225Gln
XM_011519721.1:c.673A>C	XP_011518023.1:p.Lys225Gln
XM_011519722.1:c.673A>C	XP_011518024.1:p.Lys225Gln
XM_011519723.1:c.673A>C	XP_011518025.1:p.Lys225Gln
XM_011519724.1:c.645+2175A>C	XP_011518026.1:n.645+2175A>C
XM_011519725.1:c.673A>C	XP_011518027.1:p.Lys225Gln
XM_011519726.1:c.523-2665A>C	XP_011518028.1:n.523-2665A>C
XM_011519727.1:c.465+2175A>C	XP_011518029.1:n.465+2175A>C
XM_011519728.1:c.298A>C	XP_011518030.1:p.Lys100Gln
XM_011519729.1:c.646-2029A>C	XP_011518031.1:n.646-2029A>C
XR_930518.1:n.1045A>C
XR_930519.1:n.1046A>C
XR_930520.1:n.1045A>C
XM_011519715.2:c.673A>C	XP_011518017.1:p.Lys225Gln
XM_011519718.2:c.673A>C	XP_011518020.1:p.Lys225Gln
XM_011519719.2:c.673A>C	XP_011518021.1:p.Lys225Gln
XM_011519720.2:c.673A>C	XP_011518022.1:p.Lys225Gln
XM_011519722.2:c.673A>C	XP_011518024.1:p.Lys225Gln
XM_011519724.2:c.645+2175A>C	XP_011518026.1:n.645+2175A>C
XM_011519725.2:c.673A>C	XP_011518027.1:p.Lys225Gln
XM_017016743.1:c.673A>C	XP_016872232.1:p.Lys225Gln
XM_017016744.1:c.673A>C	XP_016872233.1:p.Lys225Gln
XM_017016745.1:c.298A>C	XP_016872234.1:p.Lys100Gln
XM_024448224.1:c.493A>C	XP_024303992.1:p.Lys165Gln
XM_024448225.1:c.610A>C	XP_024303993.1:p.Lys204Gln
XM_024448226.1:c.523-2665A>C	XP_024303994.1:n.523-2665A>C
XR_001747220.1:n.1055A>C
XR_001747221.1:n.725A>C
XR_001747222.1:n.1055A>C
XR_001747223.1:n.1743+2175A>C
XR_002957024.1:n.1025-2029A>C
XR_930518.2:n.1054A>C
XR_930519.2:n.1055A>C
XR_930520.2:n.1054A>C
NM_001040177.3:c.610A>C MANE Select	NP_001035267.1:p.Lys204Gln
NM_001271021.2:c.582+2175A>C	NP_001257950.1:n.582+2175A>C
NM_001271025.2:c.460-2665A>C	NP_001257954.1:n.460-2665A>C
NR_073125.2:n.728A>C
NR_073127.2:n.700+2175A>C