Canonical Allele Identifier: CA2578032770

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618737_5618741del , CM000666.2:g.5618737_5618741del	GRCh38
NC_000004.11:g.5620464_5620468del , CM000666.1:g.5620464_5620468del	GRCh37
NC_000004.10:g.5671365_5671369del	NCBI36
NG_015821.1:g.95816_95820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2502-51_2502-47del MANE Select	ENSP00000342144.5:n.2502-51_2502-47del
ENST00000310917.6:c.2262-51_2262-47del	ENSP00000311683.2:n.2262-51_2262-47del
ENST00000344408.9:c.2502-51_2502-47del	ENSP00000342144.5:n.2502-51_2502-47del
ENST00000475313.5:c.2262-51_2262-47del	ENSP00000431981.1:n.2262-51_2262-47del
ENST00000509670.1:c.*895-51_*895-47del	ENSP00000423876.1:n.*895-51_*895-47del
NM_001166136.1:c.2262-51_2262-47del	NP_001159608.1:n.2262-51_2262-47del
NM_147127.4:c.2502-51_2502-47del	NP_667338.3:n.2502-51_2502-47del
XM_011513392.1:c.2511-51_2511-47del	XP_011511694.1:n.2511-51_2511-47del
XM_011513393.1:c.2511-51_2511-47del	XP_011511695.1:n.2511-51_2511-47del
XM_011513394.1:c.2271-51_2271-47del	XP_011511696.1:n.2271-51_2271-47del
XM_017007736.1:c.2262-51_2262-47del	XP_016863225.1:n.2262-51_2262-47del
XM_017007737.1:c.2262-51_2262-47del	XP_016863226.1:n.2262-51_2262-47del
XM_017007738.1:c.2502-51_2502-47del	XP_016863227.1:n.2502-51_2502-47del
XM_017007739.1:c.822-51_822-47del	XP_016863228.1:n.822-51_822-47del
XM_024453893.1:c.822-51_822-47del	XP_024309661.1:n.822-51_822-47del
XR_001741141.1:n.2567-51_2567-47del
NM_147127.5:c.2502-51_2502-47del MANE Select	NP_667338.3:n.2502-51_2502-47del
NM_001166136.2:c.2262-51_2262-47del	NP_001159608.1:n.2262-51_2262-47del