Canonical Allele Identifier: CA213135

Gene: ARFGEF2

Linked Data

• ClinVar Variation Id: 5050
• ClinVar RCV Id: RCV000005353 ; RCV000425899 ; RCV000710616
• dbSNP Id: rs28937880
• ExAC: 20:47570114 G / A
• gnomAD v2: 20-47570114-G-A
• gnomAD v3: 20-48953577-G-A
• gnomAD v4: 20-48953577-G-A
• MyVariant Identifiers: chr20:g.47570114G>A (hg19) ; chr20:g.48953577G>A (hg38)
• PubMed: PMID:14647276 ; PMID:27535533

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48953577G>A , CM000682.2:g.48953577G>A	GRCh38
NC_000020.10:g.47570114G>A , CM000682.1:g.47570114G>A	GRCh37
NC_000020.9:g.47003521G>A	NCBI36
NG_011490.1:g.36840G>A
NG_011490.2:g.36840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371917.5:c.625G>A MANE Select	ENSP00000360985.4:p.Glu209Lys
ENST00000679436.1:c.625G>A	ENSP00000504888.1:p.Glu209Lys
ENST00000679542.1:n.182G>A
ENST00000680635.1:n.182G>A
ENST00000680871.1:c.625G>A	ENSP00000505042.1:p.Glu209Lys
ENST00000681021.1:c.625G>A	ENSP00000505972.1:p.Glu209Lys
ENST00000681399.1:c.*308G>A	ENSP00000506363.1:n.*308G>A
ENST00000681656.1:c.625G>A	ENSP00000505638.1:p.Glu209Lys
ENST00000681885.1:c.625G>A	ENSP00000505737.1:p.Glu209Lys
ENST00000371917.4:c.625G>A	ENSP00000360985.4:p.Glu209Lys
NM_006420.2:c.625G>A	NP_006411.2:p.Glu209Lys
XM_005260252.2:c.625G>A	XP_005260309.1:p.Glu209Lys
XM_005260252.3:c.625G>A	XP_005260309.1:p.Glu209Lys
NM_006420.3:c.625G>A MANE Select	NP_006411.2:p.Glu209Lys