Canonical Allele Identifier: CA91696618

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5574730C>T , CM000666.2:g.5574730C>T	GRCh38
NC_000004.11:g.5576457C>T , CM000666.1:g.5576457C>T	GRCh37
NC_000004.10:g.5627358C>T	NCBI36
NG_015821.1:g.139819G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3315G>A MANE Select	NP_667338.3:p.Leu1105=
ENST00000344408.10:c.3315G>A MANE Select	ENSP00000342144.5:p.Leu1105=
NM_001166136.1:c.3075G>A	NP_001159608.1:p.Leu1025=
NM_001166136.2:c.3075G>A	NP_001159608.1:p.Leu1025=
NM_147127.4:c.3315G>A	NP_667338.3:p.Leu1105=
ENST00000310917.6:c.3075G>A	ENSP00000311683.2:p.Leu1025=
ENST00000344408.9:c.3315G>A	ENSP00000342144.5:p.Leu1105=
ENST00000475313.5:c.3075G>A	ENSP00000431981.1:p.Leu1025=
ENST00000509670.1:c.*1708G>A	ENSP00000423876.1:n.*1708G>A
XM_011513392.1:c.3324G>A	XP_011511694.1:p.Leu1108=
XM_011513393.1:c.3324G>A	XP_011511695.1:p.Leu1108=
XM_011513394.1:c.3084G>A	XP_011511696.1:p.Leu1028=
XM_017007736.1:c.3075G>A	XP_016863225.1:p.Leu1025=
XM_017007737.1:c.3075G>A	XP_016863226.1:p.Leu1025=
XM_017007739.1:c.1635G>A	XP_016863228.1:p.Leu545=
XM_024453893.1:c.1635G>A	XP_024309661.1:p.Leu545=
XR_001741141.1:n.3165G>A