Canonical Allele Identifier: CA9898028
Gene: ARFGEF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 338680
ClinVar RCV Id: RCV000373085
dbSNP Id: rs375056092
ExAC: 20:47538422 G / A
gnomAD v2: 20-47538422-G-A
gnomAD v3: 20-48921885-G-A
gnomAD v4: 20-48921885-G-A
MyVariant Identifiers: chr20:g.47538422G>A (hg19) chr20:g.48921885G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48921885G>A , CM000682.2:g.48921885G>A GRCh38
NC_000020.10:g.47538422G>A , CM000682.1:g.47538422G>A GRCh37
NC_000020.9:g.46971829G>A NCBI36
NG_011490.1:g.5148G>A
NG_011490.2:g.5148G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371917.5:c.-5G>A MANE Select ENSP00000360985.4:n.-5G>A
ENST00000681399.1:c.-5G>A ENSP00000506363.1:n.-5G>A
NM_006420.2:c.-5G>A NP_006411.2:n.-5G>A
XM_005260252.2:c.-5G>A XP_005260309.1:n.-5G>A
XM_005260252.3:c.-5G>A XP_005260309.1:n.-5G>A
NM_006420.3:c.-5G>A MANE Select NP_006411.2:n.-5G>A
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