Canonical Allele Identifier: CA636103655
Community Standard Title: NM_006420.3(ARFGEF2):c.*1104G>A
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49034303G>A , CM000682.2:g.49034303G>A GRCh38
NC_000020.10:g.47650840G>A , CM000682.1:g.47650840G>A GRCh37
NC_000020.9:g.47084247G>A NCBI36
NG_011490.1:g.117566G>A
NG_011490.2:g.117566G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*1104G>A MANE Select NP_006411.2:n.*1104G>A
ENST00000371917.5:c.*1104G>A MANE Select ENSP00000360985.4:n.*1104G>A
NM_006420.2:c.*1104G>A NP_006411.2:n.*1104G>A
ENST00000371917.4:c.6462G>A ENSP00000360985.4:n.6462G>A
ENST00000679436.1:c.6459G>A ENSP00000504888.1:n.6459G>A
ENST00000679542.1:n.6151G>A
ENST00000679747.1:n.2735G>A
ENST00000680130.1:n.2133G>A
ENST00000681119.1:n.3196G>A
ENST00000681399.1:c.*6139G>A ENSP00000506363.1:n.*6139G>A
XM_005260252.2:c.*1104G>A XP_005260309.1:n.*1104G>A
XM_005260252.3:c.*1104G>A XP_005260309.1:n.*1104G>A