Canonical Allele Identifier: CA1435421604

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618556C= , CM000666.2:g.5618556C=	GRCh38
NC_000004.11:g.5620283C= , CM000666.1:g.5620283C=	GRCh37
NC_000004.10:g.5671184C=	NCBI36
NG_015821.1:g.95993G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2628G= MANE Select	ENSP00000342144.5:p.Leu876=
ENST00000310917.6:c.2388G=	ENSP00000311683.2:p.Leu796=
ENST00000344408.9:c.2628G=	ENSP00000342144.5:p.Leu876=
ENST00000475313.5:c.2388G=	ENSP00000431981.1:p.Leu796=
ENST00000509670.1:c.*1021G=	ENSP00000423876.1:n.*1021G=
NM_001166136.1:c.2388G=	NP_001159608.1:p.Leu796=
NM_147127.4:c.2628G=	NP_667338.3:p.Leu876=
XM_011513392.1:c.2637G=	XP_011511694.1:p.Leu879=
XM_011513393.1:c.2637G=	XP_011511695.1:p.Leu879=
XM_011513394.1:c.2397G=	XP_011511696.1:p.Leu799=
XM_017007736.1:c.2388G=	XP_016863225.1:p.Leu796=
XM_017007737.1:c.2388G=	XP_016863226.1:p.Leu796=
XM_017007738.1:c.2628G=	XP_016863227.1:p.Leu876=
XM_017007739.1:c.948G=	XP_016863228.1:p.Leu316=
XM_024453893.1:c.948G=	XP_024309661.1:p.Leu316=
XR_001741141.1:n.2693G=
NM_147127.5:c.2628G= MANE Select	NP_667338.3:p.Leu876=
NM_001166136.2:c.2388G=	NP_001159608.1:p.Leu796=