Canonical Allele Identifier: CA1435421783

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618647_5618648delinsTC , CM000666.2:g.5618647_5618648delinsTC	GRCh38
NC_000004.11:g.5620374_5620375delinsTC , CM000666.1:g.5620374_5620375delinsTC	GRCh37
NC_000004.10:g.5671275_5671276delinsTC	NCBI36
NG_015821.1:g.95901_95902delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2536_2537delinsGA MANE Select	ENSP00000342144.5:p.Glu846=
ENST00000310917.6:c.2296_2297delinsGA	ENSP00000311683.2:p.Glu766=
ENST00000344408.9:c.2536_2537delinsGA	ENSP00000342144.5:p.Glu846=
ENST00000475313.5:c.2296_2297delinsGA	ENSP00000431981.1:p.Glu766=
ENST00000509670.1:c.*929_*930delinsGA	ENSP00000423876.1:n.*929_*930delinsGA
NM_001166136.1:c.2296_2297delinsGA	NP_001159608.1:p.Glu766=
NM_147127.4:c.2536_2537delinsGA	NP_667338.3:p.Glu846=
XM_011513392.1:c.2545_2546delinsGA	XP_011511694.1:p.Glu849=
XM_011513393.1:c.2545_2546delinsGA	XP_011511695.1:p.Glu849=
XM_011513394.1:c.2305_2306delinsGA	XP_011511696.1:p.Glu769=
XM_017007736.1:c.2296_2297delinsGA	XP_016863225.1:p.Glu766=
XM_017007737.1:c.2296_2297delinsGA	XP_016863226.1:p.Glu766=
XM_017007738.1:c.2536_2537delinsGA	XP_016863227.1:p.Glu846=
XM_017007739.1:c.856_857delinsGA	XP_016863228.1:p.Glu286=
XM_024453893.1:c.856_857delinsGA	XP_024309661.1:p.Glu286=
XR_001741141.1:n.2601_2602delinsGA
NM_147127.5:c.2536_2537delinsGA MANE Select	NP_667338.3:p.Glu846=
NM_001166136.2:c.2296_2297delinsGA	NP_001159608.1:p.Glu766=