Canonical Allele Identifier: CA356143506

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5620330G>C (hg19) ; chr4:g.5618603G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618603G>C , CM000666.2:g.5618603G>C	GRCh38
NC_000004.11:g.5620330G>C , CM000666.1:g.5620330G>C	GRCh37
NC_000004.10:g.5671231G>C	NCBI36
NG_015821.1:g.95946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2581C>G MANE Select	ENSP00000342144.5:p.Gln861Glu
ENST00000310917.6:c.2341C>G	ENSP00000311683.2:p.Gln781Glu
ENST00000344408.9:c.2581C>G	ENSP00000342144.5:p.Gln861Glu
ENST00000475313.5:c.2341C>G	ENSP00000431981.1:p.Gln781Glu
ENST00000509670.1:c.*974C>G	ENSP00000423876.1:n.*974C>G
NM_001166136.1:c.2341C>G	NP_001159608.1:p.Gln781Glu
NM_147127.4:c.2581C>G	NP_667338.3:p.Gln861Glu
XM_011513392.1:c.2590C>G	XP_011511694.1:p.Gln864Glu
XM_011513393.1:c.2590C>G	XP_011511695.1:p.Gln864Glu
XM_011513394.1:c.2350C>G	XP_011511696.1:p.Gln784Glu
XM_017007736.1:c.2341C>G	XP_016863225.1:p.Gln781Glu
XM_017007737.1:c.2341C>G	XP_016863226.1:p.Gln781Glu
XM_017007738.1:c.2581C>G	XP_016863227.1:p.Gln861Glu
XM_017007739.1:c.901C>G	XP_016863228.1:p.Gln301Glu
XM_024453893.1:c.901C>G	XP_024309661.1:p.Gln301Glu
XR_001741141.1:n.2646C>G
NM_147127.5:c.2581C>G MANE Select	NP_667338.3:p.Gln861Glu
NM_001166136.2:c.2341C>G	NP_001159608.1:p.Gln781Glu