Canonical Allele Identifier: CA2834193

Gene: EVC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563024C>T , CM000666.2:g.5563024C>T	GRCh38
NC_000004.11:g.5564751C>T , CM000666.1:g.5564751C>T	GRCh37
NC_000004.10:g.5615652C>T	NCBI36
NG_015821.1:g.151525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3751G>A MANE Select	ENSP00000342144.5:p.Glu1251Lys
ENST00000310917.6:c.3511G>A	ENSP00000311683.2:p.Glu1171Lys
ENST00000344408.9:c.3751G>A	ENSP00000342144.5:p.Glu1251Lys
ENST00000475313.5:c.3419+2234G>A	ENSP00000431981.1:n.3419+2234G>A
ENST00000509670.1:c.*2144G>A	ENSP00000423876.1:n.*2144G>A
NM_001166136.1:c.3511G>A	NP_001159608.1:p.Glu1171Lys
NM_147127.4:c.3751G>A	NP_667338.3:p.Glu1251Lys
XM_011513392.1:c.3760G>A	XP_011511694.1:p.Glu1254Lys
XM_011513393.1:c.3668+2234G>A	XP_011511695.1:n.3668+2234G>A
XM_011513394.1:c.3520G>A	XP_011511696.1:p.Glu1174Lys
XM_017007736.1:c.3511G>A	XP_016863225.1:p.Glu1171Lys
XM_017007737.1:c.3511G>A	XP_016863226.1:p.Glu1171Lys
XM_017007739.1:c.2071G>A	XP_016863228.1:p.Glu691Lys
XM_024453893.1:c.2071G>A	XP_024309661.1:p.Glu691Lys
XR_001741141.1:n.3601G>A
NM_147127.5:c.3751G>A MANE Select	NP_667338.3:p.Glu1251Lys
NM_001166136.2:c.3511G>A	NP_001159608.1:p.Glu1171Lys