Canonical Allele Identifier: CA1435425049

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628683G= , CM000666.2:g.5628683G=	GRCh38
NC_000004.11:g.5630410G= , CM000666.1:g.5630410G=	GRCh37
NC_000004.10:g.5681311G=	NCBI36
NG_015821.1:g.85866C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1762C= MANE Select	ENSP00000342144.5:p.Leu588=
ENST00000310917.6:c.1522C=	ENSP00000311683.2:p.Leu508=
ENST00000344408.9:c.1762C=	ENSP00000342144.5:p.Leu588=
ENST00000475313.5:c.1522C=	ENSP00000431981.1:p.Leu508=
ENST00000509670.1:c.*155C=	ENSP00000423876.1:n.*155C=
NM_001166136.1:c.1522C=	NP_001159608.1:p.Leu508=
NM_147127.4:c.1762C=	NP_667338.3:p.Leu588=
XM_011513392.1:c.1771C=	XP_011511694.1:p.Leu591=
XM_011513393.1:c.1771C=	XP_011511695.1:p.Leu591=
XM_011513394.1:c.1531C=	XP_011511696.1:p.Leu511=
XM_017007736.1:c.1522C=	XP_016863225.1:p.Leu508=
XM_017007737.1:c.1522C=	XP_016863226.1:p.Leu508=
XM_017007738.1:c.1762C=	XP_016863227.1:p.Leu588=
XM_017007739.1:c.82C=	XP_016863228.1:p.Leu28=
XM_024453893.1:c.82C=	XP_024309661.1:p.Leu28=
XR_001741141.1:n.1827C=
NM_147127.5:c.1762C= MANE Select	NP_667338.3:p.Leu588=
NM_001166136.2:c.1522C=	NP_001159608.1:p.Leu508=