Canonical Allele Identifier: CA2760265353

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618785_5618788del , CM000666.2:g.5618785_5618788del	GRCh38
NC_000004.11:g.5620512_5620515del , CM000666.1:g.5620512_5620515del	GRCh37
NC_000004.10:g.5671413_5671416del	NCBI36
NG_015821.1:g.95761_95764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2502-106_2502-103del MANE Select	ENSP00000342144.5:n.2502-106_2502-103del
ENST00000310917.6:c.2262-106_2262-103del	ENSP00000311683.2:n.2262-106_2262-103del
ENST00000344408.9:c.2502-106_2502-103del	ENSP00000342144.5:n.2502-106_2502-103del
ENST00000475313.5:c.2262-106_2262-103del	ENSP00000431981.1:n.2262-106_2262-103del
ENST00000509670.1:c.*895-106_*895-103del	ENSP00000423876.1:n.*895-106_*895-103del
NM_001166136.1:c.2262-106_2262-103del	NP_001159608.1:n.2262-106_2262-103del
NM_147127.4:c.2502-106_2502-103del	NP_667338.3:n.2502-106_2502-103del
XM_011513392.1:c.2511-106_2511-103del	XP_011511694.1:n.2511-106_2511-103del
XM_011513393.1:c.2511-106_2511-103del	XP_011511695.1:n.2511-106_2511-103del
XM_011513394.1:c.2271-106_2271-103del	XP_011511696.1:n.2271-106_2271-103del
XM_017007736.1:c.2262-106_2262-103del	XP_016863225.1:n.2262-106_2262-103del
XM_017007737.1:c.2262-106_2262-103del	XP_016863226.1:n.2262-106_2262-103del
XM_017007738.1:c.2502-106_2502-103del	XP_016863227.1:n.2502-106_2502-103del
XM_017007739.1:c.822-106_822-103del	XP_016863228.1:n.822-106_822-103del
XM_024453893.1:c.822-106_822-103del	XP_024309661.1:n.822-106_822-103del
XR_001741141.1:n.2567-106_2567-103del
NM_147127.5:c.2502-106_2502-103del MANE Select	NP_667338.3:n.2502-106_2502-103del
NM_001166136.2:c.2262-106_2262-103del	NP_001159608.1:n.2262-106_2262-103del