Canonical Allele Identifier: CA645509143

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5663143del , CM000666.2:g.5663143del	GRCh38
NC_000004.11:g.5664870del , CM000666.1:g.5664870del	GRCh37
NC_000004.10:g.5715771del	NCBI36
NG_015821.1:g.51407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1110del MANE Select	ENSP00000342144.5:p.Glu371ArgfsTer10
ENST00000310917.6:c.870del	ENSP00000311683.2:p.Glu291ArgfsTer10
ENST00000344408.9:c.1110del	ENSP00000342144.5:p.Glu371ArgfsTer10
ENST00000475313.5:c.870del	ENSP00000431981.1:p.Glu291ArgfsTer10
ENST00000509670.1:c.870del	ENSP00000423876.1:p.Glu291ArgfsTer10
NM_001166136.1:c.870del	NP_001159608.1:p.Glu291ArgfsTer10
NM_147127.4:c.1110del	NP_667338.3:p.Glu371ArgfsTer10
XM_011513392.1:c.1110del	XP_011511694.1:p.Glu371ArgfsTer10
XM_011513393.1:c.1110del	XP_011511695.1:p.Glu371ArgfsTer10
XM_011513394.1:c.870del	XP_011511696.1:p.Glu291ArgfsTer10
XM_017007736.1:c.870del	XP_016863225.1:p.Glu291ArgfsTer10
XM_017007737.1:c.870del	XP_016863226.1:p.Glu291ArgfsTer10
XM_017007738.1:c.1110del	XP_016863227.1:p.Glu371ArgfsTer10
XM_017007739.1:c.-563del	XP_016863228.1:n.-563del
XM_024453893.1:c.-667del	XP_024309661.1:n.-667del
XR_001741141.1:n.1175del
NM_147127.5:c.1110del MANE Select	NP_667338.3:p.Glu371ArgfsTer10
NM_001166136.2:c.870del	NP_001159608.1:p.Glu291ArgfsTer10