Canonical Allele Identifier: CA91704247

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5584799C>A , CM000666.2:g.5584799C>A	GRCh38
NC_000004.11:g.5586526C>A , CM000666.1:g.5586526C>A	GRCh37
NC_000004.10:g.5637427C>A	NCBI36
NG_015821.1:g.129750G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.2881G>T MANE Select	NP_667338.3:p.Gly961Ter
ENST00000344408.10:c.2881G>T MANE Select	ENSP00000342144.5:p.Gly961Ter
NM_001166136.1:c.2641G>T	NP_001159608.1:p.Gly881Ter
NM_001166136.2:c.2641G>T	NP_001159608.1:p.Gly881Ter
NM_147127.4:c.2881G>T	NP_667338.3:p.Gly961Ter
ENST00000310917.6:c.2641G>T	ENSP00000311683.2:p.Gly881Ter
ENST00000344408.9:c.2881G>T	ENSP00000342144.5:p.Gly961Ter
ENST00000475313.5:c.2641G>T	ENSP00000431981.1:p.Gly881Ter
ENST00000509670.1:c.*1274G>T	ENSP00000423876.1:n.*1274G>T
XM_011513392.1:c.2890G>T	XP_011511694.1:p.Gly964Ter
XM_011513393.1:c.2890G>T	XP_011511695.1:p.Gly964Ter
XM_011513394.1:c.2650G>T	XP_011511696.1:p.Gly884Ter
XM_017007736.1:c.2641G>T	XP_016863225.1:p.Gly881Ter
XM_017007737.1:c.2641G>T	XP_016863226.1:p.Gly881Ter
XM_017007738.1:c.2881G>T	XP_016863227.1:p.Gly961Ter
XM_017007739.1:c.1201G>T	XP_016863228.1:p.Gly401Ter
XM_024453893.1:c.1201G>T	XP_024309661.1:p.Gly401Ter
XR_001741141.1:n.2946G>T