Canonical Allele Identifier: CA2834661

Gene: EVC2

Linked Data

• dbSNP Id: rs780525637
• ExAC: 4:5620323 T / C
• gnomAD v2: 4-5620323-T-C
• COSMIC: COSM4941767 ; COSM4941768
• MyVariant Identifiers: chr4:g.5620323T>C (hg19) ; chr4:g.5618596T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618596T>C , CM000666.2:g.5618596T>C	GRCh38
NC_000004.11:g.5620323T>C , CM000666.1:g.5620323T>C	GRCh37
NC_000004.10:g.5671224T>C	NCBI36
NG_015821.1:g.95953A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2588A>G MANE Select	ENSP00000342144.5:p.Asp863Gly
ENST00000310917.6:c.2348A>G	ENSP00000311683.2:p.Asp783Gly
ENST00000344408.9:c.2588A>G	ENSP00000342144.5:p.Asp863Gly
ENST00000475313.5:c.2348A>G	ENSP00000431981.1:p.Asp783Gly
ENST00000509670.1:c.*981A>G	ENSP00000423876.1:n.*981A>G
NM_001166136.1:c.2348A>G	NP_001159608.1:p.Asp783Gly
NM_147127.4:c.2588A>G	NP_667338.3:p.Asp863Gly
XM_011513392.1:c.2597A>G	XP_011511694.1:p.Asp866Gly
XM_011513393.1:c.2597A>G	XP_011511695.1:p.Asp866Gly
XM_011513394.1:c.2357A>G	XP_011511696.1:p.Asp786Gly
XM_017007736.1:c.2348A>G	XP_016863225.1:p.Asp783Gly
XM_017007737.1:c.2348A>G	XP_016863226.1:p.Asp783Gly
XM_017007738.1:c.2588A>G	XP_016863227.1:p.Asp863Gly
XM_017007739.1:c.908A>G	XP_016863228.1:p.Asp303Gly
XM_024453893.1:c.908A>G	XP_024309661.1:p.Asp303Gly
XR_001741141.1:n.2653A>G
NM_147127.5:c.2588A>G MANE Select	NP_667338.3:p.Asp863Gly
NM_001166136.2:c.2348A>G	NP_001159608.1:p.Asp783Gly