Canonical Allele Identifier: CA1435390902

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563025G= , CM000666.2:g.5563025G=	GRCh38
NC_000004.11:g.5564752G= , CM000666.1:g.5564752G=	GRCh37
NC_000004.10:g.5615653G=	NCBI36
NG_015821.1:g.151524C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3750C= MANE Select	ENSP00000342144.5:p.Gly1250=
ENST00000310917.6:c.3510C=	ENSP00000311683.2:p.Gly1170=
ENST00000344408.9:c.3750C=	ENSP00000342144.5:p.Gly1250=
ENST00000475313.5:c.3419+2233C=	ENSP00000431981.1:n.3419+2233C=
ENST00000509670.1:c.*2143C=	ENSP00000423876.1:n.*2143C=
NM_001166136.1:c.3510C=	NP_001159608.1:p.Gly1170=
NM_147127.4:c.3750C=	NP_667338.3:p.Gly1250=
XM_011513392.1:c.3759C=	XP_011511694.1:p.Gly1253=
XM_011513393.1:c.3668+2233C=	XP_011511695.1:n.3668+2233C=
XM_011513394.1:c.3519C=	XP_011511696.1:p.Gly1173=
XM_017007736.1:c.3510C=	XP_016863225.1:p.Gly1170=
XM_017007737.1:c.3510C=	XP_016863226.1:p.Gly1170=
XM_017007739.1:c.2070C=	XP_016863228.1:p.Gly690=
XM_024453893.1:c.2070C=	XP_024309661.1:p.Gly690=
XR_001741141.1:n.3600C=
NM_147127.5:c.3750C= MANE Select	NP_667338.3:p.Gly1250=
NM_001166136.2:c.3510C=	NP_001159608.1:p.Gly1170=