Canonical Allele Identifier: CA315919765
Community Standard Title: NM_006420.3(ARFGEF2):c.*1708C>G
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49034907C>G , CM000682.2:g.49034907C>G GRCh38
NC_000020.10:g.47651444C>G , CM000682.1:g.47651444C>G GRCh37
NC_000020.9:g.47084851C>G NCBI36
NG_011490.1:g.118170C>G
NG_011490.2:g.118170C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*1708C>G MANE Select NP_006411.2:n.*1708C>G
ENST00000371917.5:c.*1708C>G MANE Select ENSP00000360985.4:n.*1708C>G
NM_006420.2:c.*1708C>G NP_006411.2:n.*1708C>G
ENST00000371917.4:c.7066C>G ENSP00000360985.4:n.7066C>G
ENST00000679436.1:c.7063C>G ENSP00000504888.1:n.7063C>G
ENST00000679542.1:n.6755C>G
ENST00000680130.1:n.2737C>G
ENST00000681119.1:n.3800C>G
ENST00000681399.1:c.*6743C>G ENSP00000506363.1:n.*6743C>G
XM_005260252.2:c.*1708C>G XP_005260309.1:n.*1708C>G
XM_005260252.3:c.*1708C>G XP_005260309.1:n.*1708C>G