Canonical Allele Identifier: CA356152595

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5576374G>T , CM000666.2:g.5576374G>T	GRCh38
NC_000004.11:g.5578101G>T , CM000666.1:g.5578101G>T	GRCh37
NC_000004.10:g.5629002G>T	NCBI36
NG_015821.1:g.138175C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3138C>A MANE Select	ENSP00000342144.5:p.Ser1046Arg
ENST00000310917.6:c.2898C>A	ENSP00000311683.2:p.Ser966Arg
ENST00000344408.9:c.3138C>A	ENSP00000342144.5:p.Ser1046Arg
ENST00000475313.5:c.2898C>A	ENSP00000431981.1:p.Ser966Arg
ENST00000509670.1:c.*1531C>A	ENSP00000423876.1:n.*1531C>A
NM_001166136.1:c.2898C>A	NP_001159608.1:p.Ser966Arg
NM_147127.4:c.3138C>A	NP_667338.3:p.Ser1046Arg
XM_011513392.1:c.3147C>A	XP_011511694.1:p.Ser1049Arg
XM_011513393.1:c.3147C>A	XP_011511695.1:p.Ser1049Arg
XM_011513394.1:c.2907C>A	XP_011511696.1:p.Ser969Arg
XM_017007736.1:c.2898C>A	XP_016863225.1:p.Ser966Arg
XM_017007737.1:c.2898C>A	XP_016863226.1:p.Ser966Arg
XM_017007738.1:c.3138C>A	XP_016863227.1:p.Ser1046Arg
XM_017007739.1:c.1458C>A	XP_016863228.1:p.Ser486Arg
XM_024453893.1:c.1458C>A	XP_024309661.1:p.Ser486Arg
XR_001741141.1:n.3123-1602C>A
NM_147127.5:c.3138C>A MANE Select	NP_667338.3:p.Ser1046Arg
NM_001166136.2:c.2898C>A	NP_001159608.1:p.Ser966Arg