Canonical Allele Identifier: CA9898217

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48953646C>T , CM000682.2:g.48953646C>T	GRCh38
NC_000020.10:g.47570183C>T , CM000682.1:g.47570183C>T	GRCh37
NC_000020.9:g.47003590C>T	NCBI36
NG_011490.1:g.36909C>T
NG_011490.2:g.36909C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.694C>T MANE Select	NP_006411.2:p.Arg232Cys
ENST00000371917.5:c.694C>T MANE Select	ENSP00000360985.4:p.Arg232Cys
NM_006420.2:c.694C>T	NP_006411.2:p.Arg232Cys
ENST00000371917.4:c.694C>T	ENSP00000360985.4:p.Arg232Cys
ENST00000679436.1:c.694C>T	ENSP00000504888.1:p.Arg232Cys
ENST00000679542.1:n.251C>T
ENST00000680635.1:n.251C>T
ENST00000680871.1:c.694C>T	ENSP00000505042.1:p.Arg232Cys
ENST00000681021.1:c.694C>T	ENSP00000505972.1:p.Arg232Cys
ENST00000681399.1:c.*377C>T	ENSP00000506363.1:n.*377C>T
ENST00000681656.1:c.694C>T	ENSP00000505638.1:p.Arg232Cys
ENST00000681885.1:c.694C>T	ENSP00000505737.1:p.Arg232Cys
XM_005260252.2:c.694C>T	XP_005260309.1:p.Arg232Cys
XM_005260252.3:c.694C>T	XP_005260309.1:p.Arg232Cys