Canonical Allele Identifier: CA9898340

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48969242C>T , CM000682.2:g.48969242C>T	GRCh38
NC_000020.10:g.47585779C>T , CM000682.1:g.47585779C>T	GRCh37
NC_000020.9:g.47019186C>T	NCBI36
NG_011490.1:g.52505C>T
NG_011490.2:g.52505C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.1155C>T MANE Select	NP_006411.2:p.Ser385=
ENST00000371917.5:c.1155C>T MANE Select	ENSP00000360985.4:p.Ser385=
NM_006420.2:c.1155C>T	NP_006411.2:p.Ser385=
ENST00000371917.4:c.1155C>T	ENSP00000360985.4:p.Ser385=
ENST00000679436.1:c.1152C>T	ENSP00000504888.1:p.Ser384=
ENST00000679542.1:n.712C>T
ENST00000680635.1:n.712C>T
ENST00000680871.1:c.1003C>T	ENSP00000505042.1:p.His335Tyr
ENST00000681021.1:c.1155C>T	ENSP00000505972.1:p.Ser385=
ENST00000681399.1:c.*832C>T	ENSP00000506363.1:n.*832C>T
ENST00000681656.1:c.1155C>T	ENSP00000505638.1:p.Ser385=
ENST00000681885.1:c.1155C>T	ENSP00000505737.1:p.Ser385=
XM_005260252.2:c.1152C>T	XP_005260309.1:p.Ser384=
XM_005260252.3:c.1152C>T	XP_005260309.1:p.Ser384=