Canonical Allele Identifier: CA151886
Community Standard Title: NM_006420.3(ARFGEF2):c.1644G>A (p.Glu548=)
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48973263G>A , CM000682.2:g.48973263G>A GRCh38
NC_000020.10:g.47589800G>A , CM000682.1:g.47589800G>A GRCh37
NC_000020.9:g.47023207G>A NCBI36
NG_011490.1:g.56526G>A
NG_011490.2:g.56526G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.1644G>A MANE Select NP_006411.2:p.Glu548=
ENST00000371917.5:c.1644G>A MANE Select ENSP00000360985.4:p.Glu548=
NM_006420.2:c.1644G>A NP_006411.2:p.Glu548=
ENST00000371917.4:c.1644G>A ENSP00000360985.4:p.Glu548=
ENST00000679436.1:c.1641G>A ENSP00000504888.1:p.Glu547=
ENST00000679542.1:n.1201G>A
ENST00000680635.1:n.1201G>A
ENST00000680871.1:c.1492G>A ENSP00000505042.1:n.1492G>A
ENST00000681021.1:c.1644G>A ENSP00000505972.1:p.Glu548=
ENST00000681399.1:c.*1321G>A ENSP00000506363.1:n.*1321G>A
ENST00000681656.1:c.1644G>A ENSP00000505638.1:p.Glu548=
ENST00000681885.1:c.1644G>A ENSP00000505737.1:p.Glu548=
XM_005260252.2:c.1641G>A XP_005260309.1:p.Glu547=
XM_005260252.3:c.1641G>A XP_005260309.1:p.Glu547=