Canonical Allele Identifier: CA375882586

Gene: AKR1E2

Linked Data

• MyVariant Identifiers: chr10:g.4881939C>G (hg19) ; chr10:g.4839747C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.4839747C>G , CM000672.2:g.4839747C>G	GRCh38
NC_000010.10:g.4881939C>G , CM000672.1:g.4881939C>G	GRCh37
NC_000010.9:g.4871939C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000298375.12:c.601C>G MANE Select	ENSP00000298375.7:p.Leu201Val
ENST00000298375.11:c.601C>G	ENSP00000298375.7:p.Leu201Val
ENST00000334019.4:c.582+2166C>G	ENSP00000335034.4:n.582+2166C>G
ENST00000345253.9:c.460-2674C>G	ENSP00000335603.5:n.460-2674C>G
ENST00000441590.5:n.370+2166C>G
ENST00000462718.7:n.614C>G
ENST00000463345.5:c.601C>G	ENSP00000436794.1:p.Leu201Val
ENST00000474119.5:c.289C>G	ENSP00000434437.1:p.Leu97Val
ENST00000525281.5:n.535+2166C>G
ENST00000525572.1:c.354C>G
ENST00000532248.5:c.582+2166C>G	ENSP00000432947.1:n.582+2166C>G
NM_001040177.2:c.601C>G	NP_001035267.1:p.Leu201Val
NM_001271021.1:c.582+2166C>G	NP_001257950.1:n.582+2166C>G
NM_001271025.1:c.460-2674C>G	NP_001257954.1:n.460-2674C>G
NR_073125.1:n.749C>G
NR_073126.1:n.663C>G
NR_073127.1:n.730+2166C>G
XM_006717514.2:c.465+2166C>G	XP_006717577.1:n.465+2166C>G
XM_011519715.1:c.664C>G	XP_011518017.1:p.Leu222Val
XM_011519716.1:c.664C>G	XP_011518018.1:p.Leu222Val
XM_011519717.1:c.547C>G	XP_011518019.1:p.Leu183Val
XM_011519718.1:c.664C>G	XP_011518020.1:p.Leu222Val
XM_011519719.1:c.664C>G	XP_011518021.1:p.Leu222Val
XM_011519720.1:c.664C>G	XP_011518022.1:p.Leu222Val
XM_011519721.1:c.664C>G	XP_011518023.1:p.Leu222Val
XM_011519722.1:c.664C>G	XP_011518024.1:p.Leu222Val
XM_011519723.1:c.664C>G	XP_011518025.1:p.Leu222Val
XM_011519724.1:c.645+2166C>G	XP_011518026.1:n.645+2166C>G
XM_011519725.1:c.664C>G	XP_011518027.1:p.Leu222Val
XM_011519726.1:c.523-2674C>G	XP_011518028.1:n.523-2674C>G
XM_011519727.1:c.465+2166C>G	XP_011518029.1:n.465+2166C>G
XM_011519728.1:c.289C>G	XP_011518030.1:p.Leu97Val
XM_011519729.1:c.646-2038C>G	XP_011518031.1:n.646-2038C>G
XR_930518.1:n.1036C>G
XR_930519.1:n.1037C>G
XR_930520.1:n.1036C>G
XM_011519715.2:c.664C>G	XP_011518017.1:p.Leu222Val
XM_011519718.2:c.664C>G	XP_011518020.1:p.Leu222Val
XM_011519719.2:c.664C>G	XP_011518021.1:p.Leu222Val
XM_011519720.2:c.664C>G	XP_011518022.1:p.Leu222Val
XM_011519722.2:c.664C>G	XP_011518024.1:p.Leu222Val
XM_011519724.2:c.645+2166C>G	XP_011518026.1:n.645+2166C>G
XM_011519725.2:c.664C>G	XP_011518027.1:p.Leu222Val
XM_017016743.1:c.664C>G	XP_016872232.1:p.Leu222Val
XM_017016744.1:c.664C>G	XP_016872233.1:p.Leu222Val
XM_017016745.1:c.289C>G	XP_016872234.1:p.Leu97Val
XM_024448224.1:c.484C>G	XP_024303992.1:p.Leu162Val
XM_024448225.1:c.601C>G	XP_024303993.1:p.Leu201Val
XM_024448226.1:c.523-2674C>G	XP_024303994.1:n.523-2674C>G
XR_001747220.1:n.1046C>G
XR_001747221.1:n.716C>G
XR_001747222.1:n.1046C>G
XR_001747223.1:n.1743+2166C>G
XR_002957024.1:n.1025-2038C>G
XR_930518.2:n.1045C>G
XR_930519.2:n.1046C>G
XR_930520.2:n.1045C>G
NM_001040177.3:c.601C>G MANE Select	NP_001035267.1:p.Leu201Val
NM_001271021.2:c.582+2166C>G	NP_001257950.1:n.582+2166C>G
NM_001271025.2:c.460-2674C>G	NP_001257954.1:n.460-2674C>G
NR_073125.2:n.719C>G
NR_073127.2:n.700+2166C>G