Canonical Allele Identifier: CA438205171

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2952458
• ClinVar RCV Id: RCV003815609
• MyVariant Identifiers: chr4:g.5630401T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628674T>G , CM000666.2:g.5628674T>G	GRCh38
NC_000004.11:g.5630401T>G , CM000666.1:g.5630401T>G	GRCh37
NC_000004.10:g.5681302T>G	NCBI36
NG_015821.1:g.85875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1771A>C MANE Select	ENSP00000342144.5:p.Arg591=
ENST00000310917.6:c.1531A>C	ENSP00000311683.2:p.Arg511=
ENST00000344408.9:c.1771A>C	ENSP00000342144.5:p.Arg591=
ENST00000475313.5:c.1531A>C	ENSP00000431981.1:p.Arg511=
ENST00000509670.1:c.*164A>C	ENSP00000423876.1:n.*164A>C
NM_001166136.1:c.1531A>C	NP_001159608.1:p.Arg511=
NM_147127.4:c.1771A>C	NP_667338.3:p.Arg591=
XM_011513392.1:c.1780A>C	XP_011511694.1:p.Arg594=
XM_011513393.1:c.1780A>C	XP_011511695.1:p.Arg594=
XM_011513394.1:c.1540A>C	XP_011511696.1:p.Arg514=
XM_017007736.1:c.1531A>C	XP_016863225.1:p.Arg511=
XM_017007737.1:c.1531A>C	XP_016863226.1:p.Arg511=
XM_017007738.1:c.1771A>C	XP_016863227.1:p.Arg591=
XM_017007739.1:c.91A>C	XP_016863228.1:p.Arg31=
XM_024453893.1:c.91A>C	XP_024309661.1:p.Arg31=
XR_001741141.1:n.1836A>C
NM_147127.5:c.1771A>C MANE Select	NP_667338.3:p.Arg591=
NM_001166136.2:c.1531A>C	NP_001159608.1:p.Arg511=