Canonical Allele Identifier: CA409340131

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49033095C>T , CM000682.2:g.49033095C>T	GRCh38
NC_000020.10:g.47649632C>T , CM000682.1:g.47649632C>T	GRCh37
NC_000020.9:g.47083039C>T	NCBI36
NG_011490.1:g.116358C>T
NG_011490.2:g.116358C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.5254C>T MANE Select	NP_006411.2:p.Arg1752Ter
ENST00000371917.5:c.5254C>T MANE Select	ENSP00000360985.4:p.Arg1752Ter
NM_006420.2:c.5254C>T	NP_006411.2:p.Arg1752Ter
ENST00000371917.4:c.5254C>T	ENSP00000360985.4:p.Arg1752Ter
ENST00000679436.1:c.5251C>T	ENSP00000504888.1:p.Arg1751Ter
ENST00000679542.1:n.4943C>T
ENST00000679747.1:n.1527C>T
ENST00000680130.1:n.925C>T
ENST00000680871.1:c.5102C>T	ENSP00000505042.1:n.5102C>T
ENST00000681021.1:c.6110C>T	ENSP00000505972.1:n.6110C>T
ENST00000681119.1:n.1988C>T
ENST00000681399.1:c.*4931C>T	ENSP00000506363.1:n.*4931C>T
ENST00000681656.1:c.5145C>T	ENSP00000505638.1:n.5145C>T
ENST00000681885.1:c.5123C>T	ENSP00000505737.1:n.5123C>T
XM_005260252.2:c.5251C>T	XP_005260309.1:p.Arg1751Ter
XM_005260252.3:c.5251C>T	XP_005260309.1:p.Arg1751Ter