Canonical Allele Identifier: CA2834715

Gene: EVC2

Linked Data

• ClinVar Variation Id: 280117
• ClinVar RCV Id: RCV000393643 ; RCV000672927 ; RCV001040343
• dbSNP Id: rs548681312
• ExAC: 4:5624289 G / A
• gnomAD v2: 4-5624289-G-A
• gnomAD v3: 4-5622562-G-A
• gnomAD v4: 4-5622562-G-A
• COSMIC: COSM1056158 ; COSM4342372
• MyVariant Identifiers: chr4:g.5624289G>A (hg19) ; chr4:g.5622562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5622562G>A , CM000666.2:g.5622562G>A	GRCh38
NC_000004.11:g.5624289G>A , CM000666.1:g.5624289G>A	GRCh37
NC_000004.10:g.5675190G>A	NCBI36
NG_015821.1:g.91987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2476C>T MANE Select	ENSP00000342144.5:p.Arg826Ter
ENST00000310917.6:c.2236C>T	ENSP00000311683.2:p.Arg746Ter
ENST00000344408.9:c.2476C>T	ENSP00000342144.5:p.Arg826Ter
ENST00000475313.5:c.2236C>T	ENSP00000431981.1:p.Arg746Ter
ENST00000509670.1:c.*869C>T	ENSP00000423876.1:n.*869C>T
NM_001166136.1:c.2236C>T	NP_001159608.1:p.Arg746Ter
NM_147127.4:c.2476C>T	NP_667338.3:p.Arg826Ter
XM_011513392.1:c.2485C>T	XP_011511694.1:p.Arg829Ter
XM_011513393.1:c.2485C>T	XP_011511695.1:p.Arg829Ter
XM_011513394.1:c.2245C>T	XP_011511696.1:p.Arg749Ter
XM_017007736.1:c.2236C>T	XP_016863225.1:p.Arg746Ter
XM_017007737.1:c.2236C>T	XP_016863226.1:p.Arg746Ter
XM_017007738.1:c.2476C>T	XP_016863227.1:p.Arg826Ter
XM_017007739.1:c.796C>T	XP_016863228.1:p.Arg266Ter
XM_024453893.1:c.796C>T	XP_024309661.1:p.Arg266Ter
XR_001741141.1:n.2541C>T
NM_147127.5:c.2476C>T MANE Select	NP_667338.3:p.Arg826Ter
NM_001166136.2:c.2236C>T	NP_001159608.1:p.Arg746Ter