Canonical Allele Identifier: CA1435421681

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618581A= , CM000666.2:g.5618581A=	GRCh38
NC_000004.11:g.5620308A= , CM000666.1:g.5620308A=	GRCh37
NC_000004.10:g.5671209A=	NCBI36
NG_015821.1:g.95968T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2603T= MANE Select	ENSP00000342144.5:p.Leu868=
ENST00000310917.6:c.2363T=	ENSP00000311683.2:p.Leu788=
ENST00000344408.9:c.2603T=	ENSP00000342144.5:p.Leu868=
ENST00000475313.5:c.2363T=	ENSP00000431981.1:p.Leu788=
ENST00000509670.1:c.*996T=	ENSP00000423876.1:n.*996T=
NM_001166136.1:c.2363T=	NP_001159608.1:p.Leu788=
NM_147127.4:c.2603T=	NP_667338.3:p.Leu868=
XM_011513392.1:c.2612T=	XP_011511694.1:p.Leu871=
XM_011513393.1:c.2612T=	XP_011511695.1:p.Leu871=
XM_011513394.1:c.2372T=	XP_011511696.1:p.Leu791=
XM_017007736.1:c.2363T=	XP_016863225.1:p.Leu788=
XM_017007737.1:c.2363T=	XP_016863226.1:p.Leu788=
XM_017007738.1:c.2603T=	XP_016863227.1:p.Leu868=
XM_017007739.1:c.923T=	XP_016863228.1:p.Leu308=
XM_024453893.1:c.923T=	XP_024309661.1:p.Leu308=
XR_001741141.1:n.2668T=
NM_147127.5:c.2603T= MANE Select	NP_667338.3:p.Leu868=
NM_001166136.2:c.2363T=	NP_001159608.1:p.Leu788=