Canonical Allele Identifier: CA409320328

Gene: ARFGEF2

Linked Data

• MyVariant Identifiers: chr20:g.47570151T>C (hg19) ; chr20:g.48953614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48953614T>C , CM000682.2:g.48953614T>C	GRCh38
NC_000020.10:g.47570151T>C , CM000682.1:g.47570151T>C	GRCh37
NC_000020.9:g.47003558T>C	NCBI36
NG_011490.1:g.36877T>C
NG_011490.2:g.36877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371917.5:c.662T>C MANE Select	ENSP00000360985.4:p.Ile221Thr
ENST00000679436.1:c.662T>C	ENSP00000504888.1:p.Ile221Thr
ENST00000679542.1:n.219T>C
ENST00000680635.1:n.219T>C
ENST00000680871.1:c.662T>C	ENSP00000505042.1:p.Ile221Thr
ENST00000681021.1:c.662T>C	ENSP00000505972.1:p.Ile221Thr
ENST00000681399.1:c.*345T>C	ENSP00000506363.1:n.*345T>C
ENST00000681656.1:c.662T>C	ENSP00000505638.1:p.Ile221Thr
ENST00000681885.1:c.662T>C	ENSP00000505737.1:p.Ile221Thr
ENST00000371917.4:c.662T>C	ENSP00000360985.4:p.Ile221Thr
NM_006420.2:c.662T>C	NP_006411.2:p.Ile221Thr
XM_005260252.2:c.662T>C	XP_005260309.1:p.Ile221Thr
XM_005260252.3:c.662T>C	XP_005260309.1:p.Ile221Thr
NM_006420.3:c.662T>C MANE Select	NP_006411.2:p.Ile221Thr