Canonical Allele Identifier: CA249910
Gene: ARFGEF2 HGNC NCBI

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
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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?
Search 100 bp 5'
Search 100 bp 3'