Canonical Allele Identifier: CA9899300

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49023158G>C , CM000682.2:g.49023158G>C	GRCh38
NC_000020.10:g.47639695G>C , CM000682.1:g.47639695G>C	GRCh37
NC_000020.9:g.47073102G>C	NCBI36
NG_011490.1:g.106421G>C
NG_011490.2:g.106421G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.4732G>C MANE Select	NP_006411.2:p.Ala1578Pro
ENST00000371917.5:c.4732G>C MANE Select	ENSP00000360985.4:p.Ala1578Pro
NM_006420.2:c.4732G>C	NP_006411.2:p.Ala1578Pro
ENST00000371917.4:c.4732G>C	ENSP00000360985.4:p.Ala1578Pro
ENST00000679436.1:c.4729G>C	ENSP00000504888.1:p.Ala1577Pro
ENST00000679542.1:n.4425G>C
ENST00000679747.1:n.1005G>C
ENST00000680871.1:c.4580G>C	ENSP00000505042.1:n.4580G>C
ENST00000681021.1:c.4732G>C	ENSP00000505972.1:p.Ala1578Pro
ENST00000681119.1:n.1466G>C
ENST00000681399.1:c.*4409G>C	ENSP00000506363.1:n.*4409G>C
ENST00000681656.1:c.4623G>C	ENSP00000505638.1:n.4623G>C
ENST00000681885.1:c.4625-2155G>C	ENSP00000505737.1:n.4625-2155G>C
XM_005260252.2:c.4729G>C	XP_005260309.1:p.Ala1577Pro
XM_005260252.3:c.4729G>C	XP_005260309.1:p.Ala1577Pro