Canonical Allele Identifier: CA1435421718

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618605G= , CM000666.2:g.5618605G=	GRCh38
NC_000004.11:g.5620332G= , CM000666.1:g.5620332G=	GRCh37
NC_000004.10:g.5671233G=	NCBI36
NG_015821.1:g.95944C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2579C= MANE Select	ENSP00000342144.5:p.Ala860=
ENST00000310917.6:c.2339C=	ENSP00000311683.2:p.Ala780=
ENST00000344408.9:c.2579C=	ENSP00000342144.5:p.Ala860=
ENST00000475313.5:c.2339C=	ENSP00000431981.1:p.Ala780=
ENST00000509670.1:c.*972C=	ENSP00000423876.1:n.*972C=
NM_001166136.1:c.2339C=	NP_001159608.1:p.Ala780=
NM_147127.4:c.2579C=	NP_667338.3:p.Ala860=
XM_011513392.1:c.2588C=	XP_011511694.1:p.Ala863=
XM_011513393.1:c.2588C=	XP_011511695.1:p.Ala863=
XM_011513394.1:c.2348C=	XP_011511696.1:p.Ala783=
XM_017007736.1:c.2339C=	XP_016863225.1:p.Ala780=
XM_017007737.1:c.2339C=	XP_016863226.1:p.Ala780=
XM_017007738.1:c.2579C=	XP_016863227.1:p.Ala860=
XM_017007739.1:c.899C=	XP_016863228.1:p.Ala300=
XM_024453893.1:c.899C=	XP_024309661.1:p.Ala300=
XR_001741141.1:n.2644C=
NM_147127.5:c.2579C= MANE Select	NP_667338.3:p.Ala860=
NM_001166136.2:c.2339C=	NP_001159608.1:p.Ala780=