Canonical Allele Identifier: CA438204967

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1154537
• ClinVar RCV Id: RCV001496541
• dbSNP Id: rs2108847045
• MyVariant Identifiers: chr4:g.5630315C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628588C>T , CM000666.2:g.5628588C>T	GRCh38
NC_000004.11:g.5630315C>T , CM000666.1:g.5630315C>T	GRCh37
NC_000004.10:g.5681216C>T	NCBI36
NG_015821.1:g.85961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1857G>A MANE Select	ENSP00000342144.5:p.Gln619=
ENST00000310917.6:c.1617G>A	ENSP00000311683.2:p.Gln539=
ENST00000344408.9:c.1857G>A	ENSP00000342144.5:p.Gln619=
ENST00000475313.5:c.1617G>A	ENSP00000431981.1:p.Gln539=
ENST00000509670.1:c.*250G>A	ENSP00000423876.1:n.*250G>A
NM_001166136.1:c.1617G>A	NP_001159608.1:p.Gln539=
NM_147127.4:c.1857G>A	NP_667338.3:p.Gln619=
XM_011513392.1:c.1866G>A	XP_011511694.1:p.Gln622=
XM_011513393.1:c.1866G>A	XP_011511695.1:p.Gln622=
XM_011513394.1:c.1626G>A	XP_011511696.1:p.Gln542=
XM_017007736.1:c.1617G>A	XP_016863225.1:p.Gln539=
XM_017007737.1:c.1617G>A	XP_016863226.1:p.Gln539=
XM_017007738.1:c.1857G>A	XP_016863227.1:p.Gln619=
XM_017007739.1:c.177G>A	XP_016863228.1:p.Gln59=
XM_024453893.1:c.177G>A	XP_024309661.1:p.Gln59=
XR_001741141.1:n.1922G>A
NM_147127.5:c.1857G>A MANE Select	NP_667338.3:p.Gln619=
NM_001166136.2:c.1617G>A	NP_001159608.1:p.Gln539=