Canonical Allele Identifier: CA1435390846

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562926G= , CM000666.2:g.5562926G=	GRCh38
NC_000004.11:g.5564653G= , CM000666.1:g.5564653G=	GRCh37
NC_000004.10:g.5615554G=	NCBI36
NG_015821.1:g.151623C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3849C= MANE Select	ENSP00000342144.5:p.Ile1283=
ENST00000310917.6:c.3609C=	ENSP00000311683.2:p.Ile1203=
ENST00000344408.9:c.3849C=	ENSP00000342144.5:p.Ile1283=
ENST00000475313.5:c.3419+2332C=	ENSP00000431981.1:n.3419+2332C=
ENST00000509670.1:c.*2242C=	ENSP00000423876.1:n.*2242C=
NM_001166136.1:c.3609C=	NP_001159608.1:p.Ile1203=
NM_147127.4:c.3849C=	NP_667338.3:p.Ile1283=
XM_011513392.1:c.3858C=	XP_011511694.1:p.Ile1286=
XM_011513393.1:c.3668+2332C=	XP_011511695.1:n.3668+2332C=
XM_011513394.1:c.3618C=	XP_011511696.1:p.Ile1206=
XM_017007736.1:c.3609C=	XP_016863225.1:p.Ile1203=
XM_017007737.1:c.3609C=	XP_016863226.1:p.Ile1203=
XM_017007739.1:c.2169C=	XP_016863228.1:p.Ile723=
XM_024453893.1:c.2169C=	XP_024309661.1:p.Ile723=
XR_001741141.1:n.3699C=
NM_147127.5:c.3849C= MANE Select	NP_667338.3:p.Ile1283=
NM_001166136.2:c.3609C=	NP_001159608.1:p.Ile1203=