Canonical Allele Identifier: CA2580070747

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5640527_5640533dup , CM000666.2:g.5640527_5640533dup	GRCh38
NC_000004.11:g.5642254_5642260dup , CM000666.1:g.5642254_5642260dup	GRCh37
NC_000004.10:g.5693155_5693161dup	NCBI36
NG_015821.1:g.74018_74024dup

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.1453_1459dup MANE Select	NP_667338.3:p.Ala487GlufsTer5
ENST00000344408.10:c.1453_1459dup MANE Select	ENSP00000342144.5:p.Ala487GlufsTer5
NM_001166136.1:c.1213_1219dup	NP_001159608.1:p.Ala407GlufsTer5
NM_001166136.2:c.1213_1219dup	NP_001159608.1:p.Ala407GlufsTer5
NM_147127.4:c.1453_1459dup	NP_667338.3:p.Ala487GlufsTer5
ENST00000310917.6:c.1213_1219dup	ENSP00000311683.2:p.Ala407GlufsTer5
ENST00000344408.9:c.1453_1459dup	ENSP00000342144.5:p.Ala487GlufsTer5
ENST00000475313.5:c.1213_1219dup	ENSP00000431981.1:p.Ala407GlufsTer5
ENST00000509670.1:c.1213_1219dup	ENSP00000423876.1:p.Ala407GlufsTer7
XM_011513392.1:c.1453_1459dup	XP_011511694.1:p.Ala487GlufsTer5
XM_011513393.1:c.1453_1459dup	XP_011511695.1:p.Ala487GlufsTer5
XM_011513394.1:c.1213_1219dup	XP_011511696.1:p.Ala407GlufsTer5
XM_017007736.1:c.1213_1219dup	XP_016863225.1:p.Ala407GlufsTer5
XM_017007737.1:c.1213_1219dup	XP_016863226.1:p.Ala407GlufsTer5
XM_017007738.1:c.1453_1459dup	XP_016863227.1:p.Ala487GlufsTer5
XM_017007739.1:c.-220_-214dup	XP_016863228.1:n.-220_-214dup
XM_024453893.1:c.-324_-318dup	XP_024309661.1:n.-324_-318dup
XR_001741141.1:n.1518_1524dup