Canonical Allele Identifier: CA9899195

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49017279A>C , CM000682.2:g.49017279A>C	GRCh38
NC_000020.10:g.47633816A>C , CM000682.1:g.47633816A>C	GRCh37
NC_000020.9:g.47067223A>C	NCBI36
NG_011490.1:g.100542A>C
NG_011490.2:g.100542A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.4346A>C MANE Select	NP_006411.2:p.Asn1449Thr
ENST00000371917.5:c.4346A>C MANE Select	ENSP00000360985.4:p.Asn1449Thr
NM_006420.2:c.4346A>C	NP_006411.2:p.Asn1449Thr
ENST00000371917.4:c.4346A>C	ENSP00000360985.4:p.Asn1449Thr
ENST00000679436.1:c.4343A>C	ENSP00000504888.1:p.Asn1448Thr
ENST00000679542.1:n.4039A>C
ENST00000680635.1:n.3903A>C
ENST00000680871.1:c.4194A>C	ENSP00000505042.1:n.4194A>C
ENST00000681021.1:c.4346A>C	ENSP00000505972.1:p.Asn1449Thr
ENST00000681119.1:n.1080A>C
ENST00000681399.1:c.*4023A>C	ENSP00000506363.1:n.*4023A>C
ENST00000681656.1:c.4237A>C	ENSP00000505638.1:n.4237A>C
ENST00000681885.1:c.4346A>C	ENSP00000505737.1:p.Asn1449Thr
XM_005260252.2:c.4343A>C	XP_005260309.1:p.Asn1448Thr
XM_005260252.3:c.4343A>C	XP_005260309.1:p.Asn1448Thr