Canonical Allele Identifier: CA213135
Gene: ARFGEF2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'