Canonical Allele Identifier: CA2760265296

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618523dup , CM000666.2:g.5618523dup	GRCh38
NC_000004.11:g.5620250dup , CM000666.1:g.5620250dup	GRCh37
NC_000004.10:g.5671151dup	NCBI36
NG_015821.1:g.96026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2661dup MANE Select	ENSP00000342144.5:p.Glu888ArgfsTer13
ENST00000310917.6:c.2421dup	ENSP00000311683.2:p.Glu808ArgfsTer13
ENST00000344408.9:c.2661dup	ENSP00000342144.5:p.Glu888ArgfsTer13
ENST00000475313.5:c.2421dup	ENSP00000431981.1:p.Glu808ArgfsTer13
ENST00000509670.1:c.*1054dup	ENSP00000423876.1:n.*1054dup
NM_001166136.1:c.2421dup	NP_001159608.1:p.Glu808ArgfsTer13
NM_147127.4:c.2661dup	NP_667338.3:p.Glu888ArgfsTer13
XM_011513392.1:c.2670dup	XP_011511694.1:p.Glu891ArgfsTer13
XM_011513393.1:c.2670dup	XP_011511695.1:p.Glu891ArgfsTer13
XM_011513394.1:c.2430dup	XP_011511696.1:p.Glu811ArgfsTer13
XM_017007736.1:c.2421dup	XP_016863225.1:p.Glu808ArgfsTer13
XM_017007737.1:c.2421dup	XP_016863226.1:p.Glu808ArgfsTer13
XM_017007738.1:c.2661dup	XP_016863227.1:p.Glu888ArgfsTer13
XM_017007739.1:c.981dup	XP_016863228.1:p.Glu328ArgfsTer13
XM_024453893.1:c.981dup	XP_024309661.1:p.Glu328ArgfsTer13
XR_001741141.1:n.2726dup
NM_147127.5:c.2661dup MANE Select	NP_667338.3:p.Glu888ArgfsTer13
NM_001166136.2:c.2421dup	NP_001159608.1:p.Glu808ArgfsTer13