Canonical Allele Identifier: CA438203869

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2121756
• ClinVar RCV Id: RCV003043357
• dbSNP Id: rs1715453971
• MyVariant Identifiers: chr4:g.5620376T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618649T>C , CM000666.2:g.5618649T>C	GRCh38
NC_000004.11:g.5620376T>C , CM000666.1:g.5620376T>C	GRCh37
NC_000004.10:g.5671277T>C	NCBI36
NG_015821.1:g.95900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2535A>G MANE Select	ENSP00000342144.5:p.Glu845=
ENST00000310917.6:c.2295A>G	ENSP00000311683.2:p.Glu765=
ENST00000344408.9:c.2535A>G	ENSP00000342144.5:p.Glu845=
ENST00000475313.5:c.2295A>G	ENSP00000431981.1:p.Glu765=
ENST00000509670.1:c.*928A>G	ENSP00000423876.1:n.*928A>G
NM_001166136.1:c.2295A>G	NP_001159608.1:p.Glu765=
NM_147127.4:c.2535A>G	NP_667338.3:p.Glu845=
XM_011513392.1:c.2544A>G	XP_011511694.1:p.Glu848=
XM_011513393.1:c.2544A>G	XP_011511695.1:p.Glu848=
XM_011513394.1:c.2304A>G	XP_011511696.1:p.Glu768=
XM_017007736.1:c.2295A>G	XP_016863225.1:p.Glu765=
XM_017007737.1:c.2295A>G	XP_016863226.1:p.Glu765=
XM_017007738.1:c.2535A>G	XP_016863227.1:p.Glu845=
XM_017007739.1:c.855A>G	XP_016863228.1:p.Glu285=
XM_024453893.1:c.855A>G	XP_024309661.1:p.Glu285=
XR_001741141.1:n.2600A>G
NM_147127.5:c.2535A>G MANE Select	NP_667338.3:p.Glu845=
NM_001166136.2:c.2295A>G	NP_001159608.1:p.Glu765=