Canonical Allele Identifier: CA438203186

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5565359C>T , CM000666.2:g.5565359C>T	GRCh38
NC_000004.11:g.5567086C>T , CM000666.1:g.5567086C>T	GRCh37
NC_000004.10:g.5617987C>T	NCBI36
NG_015821.1:g.149190G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3558G>A MANE Select	NP_667338.3:p.Arg1186=
ENST00000344408.10:c.3558G>A MANE Select	ENSP00000342144.5:p.Arg1186=
NM_001166136.1:c.3318G>A	NP_001159608.1:p.Arg1106=
NM_001166136.2:c.3318G>A	NP_001159608.1:p.Arg1106=
NM_147127.4:c.3558G>A	NP_667338.3:p.Arg1186=
ENST00000310917.6:c.3318G>A	ENSP00000311683.2:p.Arg1106=
ENST00000344408.9:c.3558G>A	ENSP00000342144.5:p.Arg1186=
ENST00000475313.5:c.3318G>A	ENSP00000431981.1:p.Arg1106=
ENST00000509670.1:c.*1951G>A	ENSP00000423876.1:n.*1951G>A
XM_011513392.1:c.3567G>A	XP_011511694.1:p.Arg1189=
XM_011513393.1:c.3567G>A	XP_011511695.1:p.Arg1189=
XM_011513394.1:c.3327G>A	XP_011511696.1:p.Arg1109=
XM_017007736.1:c.3318G>A	XP_016863225.1:p.Arg1106=
XM_017007737.1:c.3318G>A	XP_016863226.1:p.Arg1106=
XM_017007739.1:c.1878G>A	XP_016863228.1:p.Arg626=
XM_024453893.1:c.1878G>A	XP_024309661.1:p.Arg626=
XR_001741141.1:n.3408G>A