Canonical Allele Identifier: CA438203803

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5620262C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618535C>G , CM000666.2:g.5618535C>G	GRCh38
NC_000004.11:g.5620262C>G , CM000666.1:g.5620262C>G	GRCh37
NC_000004.10:g.5671163C>G	NCBI36
NG_015821.1:g.96014G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.2649G>C MANE Select	ENSP00000342144.5:p.Ala883=
ENST00000310917.6:c.2409G>C	ENSP00000311683.2:p.Ala803=
ENST00000344408.9:c.2649G>C	ENSP00000342144.5:p.Ala883=
ENST00000475313.5:c.2409G>C	ENSP00000431981.1:p.Ala803=
ENST00000509670.1:c.*1042G>C	ENSP00000423876.1:n.*1042G>C
NM_001166136.1:c.2409G>C	NP_001159608.1:p.Ala803=
NM_147127.4:c.2649G>C	NP_667338.3:p.Ala883=
XM_011513392.1:c.2658G>C	XP_011511694.1:p.Ala886=
XM_011513393.1:c.2658G>C	XP_011511695.1:p.Ala886=
XM_011513394.1:c.2418G>C	XP_011511696.1:p.Ala806=
XM_017007736.1:c.2409G>C	XP_016863225.1:p.Ala803=
XM_017007737.1:c.2409G>C	XP_016863226.1:p.Ala803=
XM_017007738.1:c.2649G>C	XP_016863227.1:p.Ala883=
XM_017007739.1:c.969G>C	XP_016863228.1:p.Ala323=
XM_024453893.1:c.969G>C	XP_024309661.1:p.Ala323=
XR_001741141.1:n.2714G>C
NM_147127.5:c.2649G>C MANE Select	NP_667338.3:p.Ala883=
NM_001166136.2:c.2409G>C	NP_001159608.1:p.Ala803=