Canonical Allele Identifier: CA249910

Gene: ARFGEF2

Linked Data

• ClinVar Variation Id: 183282
• ClinVar RCV Id: RCV000162104 ; RCV000484140
• dbSNP Id: rs730882200
• MyVariant Identifiers: chr20:g.47570145dupC (hg19) ; chr20:g.48953608dupC (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48953608dup , CM000682.2:g.48953608dup	GRCh38
NC_000020.10:g.47570145dup , CM000682.1:g.47570145dup	GRCh37
NC_000020.9:g.47003552dup	NCBI36
NG_011490.1:g.36871dup
NG_011490.2:g.36871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371917.5:c.656dup MANE Select	ENSP00000360985.4:p.Val220CysfsTer?
ENST00000679436.1:c.656dup	ENSP00000504888.1:p.Val220CysfsTer?
ENST00000679542.1:n.213dup
ENST00000680635.1:n.213dup
ENST00000680871.1:c.656dup	ENSP00000505042.1:p.Val220CysfsTer?
ENST00000681021.1:c.656dup	ENSP00000505972.1:p.Val220CysfsTer?
ENST00000681399.1:c.*339dup	ENSP00000506363.1:n.*339dup
ENST00000681656.1:c.656dup	ENSP00000505638.1:p.Val220CysfsTer?
ENST00000681885.1:c.656dup	ENSP00000505737.1:p.Val220CysfsTer?
ENST00000371917.4:c.656dup	ENSP00000360985.4:p.Val220CysfsTer?
NM_006420.2:c.656dup	NP_006411.2:p.Val220CysfsTer?
XM_005260252.2:c.656dup	XP_005260309.1:p.Val220CysfsTer?
XM_005260252.3:c.656dup	XP_005260309.1:p.Val220CysfsTer?
NM_006420.3:c.656dup MANE Select	NP_006411.2:p.Val220CysfsTer?