Canonical Allele Identifier: CA2499217291

Gene: EVC2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5665628_5665644dup , CM000666.2:g.5665628_5665644dup	GRCh38
NC_000004.11:g.5667355_5667371dup , CM000666.1:g.5667355_5667371dup	GRCh37
NC_000004.10:g.5718256_5718272dup	NCBI36
NG_015821.1:g.48905_48921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.876_892dup MANE Select	ENSP00000342144.5:p.His298ArgfsTer21
ENST00000310917.6:c.636_652dup	ENSP00000311683.2:p.His218ArgfsTer21
ENST00000344408.9:c.876_892dup	ENSP00000342144.5:p.His298ArgfsTer21
ENST00000475313.5:c.636_652dup	ENSP00000431981.1:p.His218ArgfsTer21
ENST00000509670.1:c.636_652dup	ENSP00000423876.1:p.His218ArgfsTer21
NM_001166136.1:c.636_652dup	NP_001159608.1:p.His218ArgfsTer21
NM_147127.4:c.876_892dup	NP_667338.3:p.His298ArgfsTer21
XM_011513392.1:c.876_892dup	XP_011511694.1:p.His298ArgfsTer21
XM_011513393.1:c.876_892dup	XP_011511695.1:p.His298ArgfsTer21
XM_011513394.1:c.636_652dup	XP_011511696.1:p.His218ArgfsTer21
XM_017007736.1:c.636_652dup	XP_016863225.1:p.His218ArgfsTer21
XM_017007737.1:c.636_652dup	XP_016863226.1:p.His218ArgfsTer21
XM_017007738.1:c.876_892dup	XP_016863227.1:p.His298ArgfsTer21
XM_017007739.1:c.-797_-781dup	XP_016863228.1:n.-797_-781dup
XM_024453893.1:c.-901_-885dup	XP_024309661.1:n.-901_-885dup
XR_001741141.1:n.941_957dup
NM_147127.5:c.876_892dup MANE Select	NP_667338.3:p.His298ArgfsTer21
NM_001166136.2:c.636_652dup	NP_001159608.1:p.His218ArgfsTer21