Canonical Allele Identifier: CA2544572784

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618547_5618548del , CM000666.2:g.5618547_5618548del	GRCh38
NC_000004.11:g.5620274_5620275del , CM000666.1:g.5620274_5620275del	GRCh37
NC_000004.10:g.5671175_5671176del	NCBI36
NG_015821.1:g.96001_96002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2636_2637del MANE Select	ENSP00000342144.5:p.Gln879LeufsTer21
ENST00000310917.6:c.2396_2397del	ENSP00000311683.2:p.Gln799LeufsTer21
ENST00000344408.9:c.2636_2637del	ENSP00000342144.5:p.Gln879LeufsTer21
ENST00000475313.5:c.2396_2397del	ENSP00000431981.1:p.Gln799LeufsTer21
ENST00000509670.1:c.*1029_*1030del	ENSP00000423876.1:n.*1029_*1030del
NM_001166136.1:c.2396_2397del	NP_001159608.1:p.Gln799LeufsTer21
NM_147127.4:c.2636_2637del	NP_667338.3:p.Gln879LeufsTer21
XM_011513392.1:c.2645_2646del	XP_011511694.1:p.Gln882LeufsTer21
XM_011513393.1:c.2645_2646del	XP_011511695.1:p.Gln882LeufsTer21
XM_011513394.1:c.2405_2406del	XP_011511696.1:p.Gln802LeufsTer21
XM_017007736.1:c.2396_2397del	XP_016863225.1:p.Gln799LeufsTer21
XM_017007737.1:c.2396_2397del	XP_016863226.1:p.Gln799LeufsTer21
XM_017007738.1:c.2636_2637del	XP_016863227.1:p.Gln879LeufsTer21
XM_017007739.1:c.956_957del	XP_016863228.1:p.Gln319LeufsTer21
XM_024453893.1:c.956_957del	XP_024309661.1:p.Gln319LeufsTer21
XR_001741141.1:n.2701_2702del
NM_147127.5:c.2636_2637del MANE Select	NP_667338.3:p.Gln879LeufsTer21
NM_001166136.2:c.2396_2397del	NP_001159608.1:p.Gln799LeufsTer21