Canonical Allele Identifier: CA2573138255

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5622635del , CM000666.2:g.5622635del	GRCh38
NC_000004.11:g.5624362del , CM000666.1:g.5624362del	GRCh37
NC_000004.10:g.5675263del	NCBI36
NG_015821.1:g.91916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2405del MANE Select	ENSP00000342144.5:p.Gly802ValfsTer5
ENST00000310917.6:c.2165del	ENSP00000311683.2:p.Gly722ValfsTer5
ENST00000344408.9:c.2405del	ENSP00000342144.5:p.Gly802ValfsTer5
ENST00000475313.5:c.2165del	ENSP00000431981.1:p.Gly722ValfsTer5
ENST00000509670.1:c.*798del	ENSP00000423876.1:n.*798del
NM_001166136.1:c.2165del	NP_001159608.1:p.Gly722ValfsTer5
NM_147127.4:c.2405del	NP_667338.3:p.Gly802ValfsTer5
XM_011513392.1:c.2414del	XP_011511694.1:p.Gly805ValfsTer5
XM_011513393.1:c.2414del	XP_011511695.1:p.Gly805ValfsTer5
XM_011513394.1:c.2174del	XP_011511696.1:p.Gly725ValfsTer5
XM_017007736.1:c.2165del	XP_016863225.1:p.Gly722ValfsTer5
XM_017007737.1:c.2165del	XP_016863226.1:p.Gly722ValfsTer5
XM_017007738.1:c.2405del	XP_016863227.1:p.Gly802ValfsTer5
XM_017007739.1:c.725del	XP_016863228.1:p.Gly242ValfsTer5
XM_024453893.1:c.725del	XP_024309661.1:p.Gly242ValfsTer5
XR_001741141.1:n.2470del
NM_147127.5:c.2405del MANE Select	NP_667338.3:p.Gly802ValfsTer5
NM_001166136.2:c.2165del	NP_001159608.1:p.Gly722ValfsTer5