Canonical Allele Identifier: CA2740091136

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5622981del , CM000666.2:g.5622981del	GRCh38
NC_000004.11:g.5624708del , CM000666.1:g.5624708del	GRCh37
NC_000004.10:g.5675609del	NCBI36
NG_015821.1:g.91568del

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.2057del MANE Select	NP_667338.3:p.Gln686ArgfsTer28
ENST00000344408.10:c.2057del MANE Select	ENSP00000342144.5:p.Gln686ArgfsTer28
NM_001166136.1:c.1817del	NP_001159608.1:p.Gln606ArgfsTer28
NM_001166136.2:c.1817del	NP_001159608.1:p.Gln606ArgfsTer28
NM_147127.4:c.2057del	NP_667338.3:p.Gln686ArgfsTer28
ENST00000310917.6:c.1817del	ENSP00000311683.2:p.Gln606ArgfsTer28
ENST00000344408.9:c.2057del	ENSP00000342144.5:p.Gln686ArgfsTer28
ENST00000475313.5:c.1817del	ENSP00000431981.1:p.Gln606ArgfsTer28
ENST00000509670.1:c.*450del	ENSP00000423876.1:n.*450del
XM_011513392.1:c.2066del	XP_011511694.1:p.Gln689ArgfsTer28
XM_011513393.1:c.2066del	XP_011511695.1:p.Gln689ArgfsTer28
XM_011513394.1:c.1826del	XP_011511696.1:p.Gln609ArgfsTer28
XM_017007736.1:c.1817del	XP_016863225.1:p.Gln606ArgfsTer28
XM_017007737.1:c.1817del	XP_016863226.1:p.Gln606ArgfsTer28
XM_017007738.1:c.2057del	XP_016863227.1:p.Gln686ArgfsTer28
XM_017007739.1:c.377del	XP_016863228.1:p.Gln126ArgfsTer28
XM_024453893.1:c.377del	XP_024309661.1:p.Gln126ArgfsTer28
XR_001741141.1:n.2122del