Canonical Allele Identifier: CA315913001

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48971133C>T , CM000682.2:g.48971133C>T	GRCh38
NC_000020.10:g.47587670C>T , CM000682.1:g.47587670C>T	GRCh37
NC_000020.9:g.47021077C>T	NCBI36
NG_011490.1:g.54396C>T
NG_011490.2:g.54396C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.1204C>T MANE Select	NP_006411.2:p.Arg402Cys
ENST00000371917.5:c.1204C>T MANE Select	ENSP00000360985.4:p.Arg402Cys
NM_006420.2:c.1204C>T	NP_006411.2:p.Arg402Cys
ENST00000371917.4:c.1204C>T	ENSP00000360985.4:p.Arg402Cys
ENST00000679436.1:c.1201C>T	ENSP00000504888.1:p.Arg401Cys
ENST00000679542.1:n.761C>T
ENST00000680635.1:n.761C>T
ENST00000680871.1:c.1052C>T	ENSP00000505042.1:n.1052C>T
ENST00000681021.1:c.1204C>T	ENSP00000505972.1:p.Arg402Cys
ENST00000681399.1:c.*881C>T	ENSP00000506363.1:n.*881C>T
ENST00000681656.1:c.1204C>T	ENSP00000505638.1:p.Arg402Cys
ENST00000681885.1:c.1204C>T	ENSP00000505737.1:p.Arg402Cys
XM_005260252.2:c.1201C>T	XP_005260309.1:p.Arg401Cys
XM_005260252.3:c.1201C>T	XP_005260309.1:p.Arg401Cys