Canonical Allele Identifier: CA409323606

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49013648G>T , CM000682.2:g.49013648G>T	GRCh38
NC_000020.10:g.47630185G>T , CM000682.1:g.47630185G>T	GRCh37
NC_000020.9:g.47063592G>T	NCBI36
NG_011490.1:g.96911G>T
NG_011490.2:g.96911G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.4003G>T MANE Select	NP_006411.2:p.Glu1335Ter
ENST00000371917.5:c.4003G>T MANE Select	ENSP00000360985.4:p.Glu1335Ter
NM_006420.2:c.4003G>T	NP_006411.2:p.Glu1335Ter
ENST00000371917.4:c.4003G>T	ENSP00000360985.4:p.Glu1335Ter
ENST00000679436.1:c.4000G>T	ENSP00000504888.1:p.Glu1334Ter
ENST00000679542.1:n.3560G>T
ENST00000680635.1:n.3560G>T
ENST00000680871.1:c.3851G>T	ENSP00000505042.1:n.3851G>T
ENST00000681021.1:c.4003G>T	ENSP00000505972.1:p.Glu1335Ter
ENST00000681119.1:n.601G>T
ENST00000681399.1:c.*3680G>T	ENSP00000506363.1:n.*3680G>T
ENST00000681656.1:c.3894G>T	ENSP00000505638.1:n.3894G>T
ENST00000681885.1:c.4003G>T	ENSP00000505737.1:p.Glu1335Ter
XM_005260252.2:c.4000G>T	XP_005260309.1:p.Glu1334Ter
XM_005260252.3:c.4000G>T	XP_005260309.1:p.Glu1334Ter