Canonical Allele Identifier: CA915953109

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48972392del , CM000682.2:g.48972392del	GRCh38
NC_000020.10:g.47588929del , CM000682.1:g.47588929del	GRCh37
NC_000020.9:g.47022336del	NCBI36
NG_011490.1:g.55655del
NG_011490.2:g.55655del

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.1492del MANE Select	NP_006411.2:p.Met498TrpfsTer6
ENST00000371917.5:c.1492del MANE Select	ENSP00000360985.4:p.Met498TrpfsTer6
NM_006420.2:c.1492del	NP_006411.2:p.Met498TrpfsTer6
ENST00000371917.4:c.1492del	ENSP00000360985.4:p.Met498TrpfsTer6
ENST00000679436.1:c.1489del	ENSP00000504888.1:p.Met497TrpfsTer6
ENST00000679542.1:n.1049del
ENST00000680635.1:n.1049del
ENST00000680871.1:c.1340del	ENSP00000505042.1:n.1340del
ENST00000681021.1:c.1492del	ENSP00000505972.1:p.Met498TrpfsTer6
ENST00000681399.1:c.*1169del	ENSP00000506363.1:n.*1169del
ENST00000681656.1:c.1492del	ENSP00000505638.1:p.Met498TrpfsTer6
ENST00000681885.1:c.1492del	ENSP00000505737.1:p.Met498TrpfsTer6
XM_005260252.2:c.1489del	XP_005260309.1:p.Met497TrpfsTer6
XM_005260252.3:c.1489del	XP_005260309.1:p.Met497TrpfsTer6