Canonical Allele Identifier: CA356145591

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5622982G>A , CM000666.2:g.5622982G>A	GRCh38
NC_000004.11:g.5624709G>A , CM000666.1:g.5624709G>A	GRCh37
NC_000004.10:g.5675610G>A	NCBI36
NG_015821.1:g.91567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2056C>T MANE Select	ENSP00000342144.5:p.Gln686Ter
ENST00000310917.6:c.1816C>T	ENSP00000311683.2:p.Gln606Ter
ENST00000344408.9:c.2056C>T	ENSP00000342144.5:p.Gln686Ter
ENST00000475313.5:c.1816C>T	ENSP00000431981.1:p.Gln606Ter
ENST00000509670.1:c.*449C>T	ENSP00000423876.1:n.*449C>T
NM_001166136.1:c.1816C>T	NP_001159608.1:p.Gln606Ter
NM_147127.4:c.2056C>T	NP_667338.3:p.Gln686Ter
XM_011513392.1:c.2065C>T	XP_011511694.1:p.Gln689Ter
XM_011513393.1:c.2065C>T	XP_011511695.1:p.Gln689Ter
XM_011513394.1:c.1825C>T	XP_011511696.1:p.Gln609Ter
XM_017007736.1:c.1816C>T	XP_016863225.1:p.Gln606Ter
XM_017007737.1:c.1816C>T	XP_016863226.1:p.Gln606Ter
XM_017007738.1:c.2056C>T	XP_016863227.1:p.Gln686Ter
XM_017007739.1:c.376C>T	XP_016863228.1:p.Gln126Ter
XM_024453893.1:c.376C>T	XP_024309661.1:p.Gln126Ter
XR_001741141.1:n.2121C>T
NM_147127.5:c.2056C>T MANE Select	NP_667338.3:p.Gln686Ter
NM_001166136.2:c.1816C>T	NP_001159608.1:p.Gln606Ter