Canonical Allele Identifier: CA315902347

Gene: ARFGEF2

Linked Data

• dbSNP Id: rs995753906
• gnomAD v4: 20-48953621-T-C
• MyVariant Identifiers: chr20:g.47570158T>C (hg19) ; chr20:g.48953621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.48953621T>C , CM000682.2:g.48953621T>C	GRCh38
NC_000020.10:g.47570158T>C , CM000682.1:g.47570158T>C	GRCh37
NC_000020.9:g.47003565T>C	NCBI36
NG_011490.1:g.36884T>C
NG_011490.2:g.36884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371917.5:c.669T>C MANE Select	ENSP00000360985.4:p.Ala223=
ENST00000679436.1:c.669T>C	ENSP00000504888.1:p.Ala223=
ENST00000679542.1:n.226T>C
ENST00000680635.1:n.226T>C
ENST00000680871.1:c.669T>C	ENSP00000505042.1:p.Ala223=
ENST00000681021.1:c.669T>C	ENSP00000505972.1:p.Ala223=
ENST00000681399.1:c.*352T>C	ENSP00000506363.1:n.*352T>C
ENST00000681656.1:c.669T>C	ENSP00000505638.1:p.Ala223=
ENST00000681885.1:c.669T>C	ENSP00000505737.1:p.Ala223=
ENST00000371917.4:c.669T>C	ENSP00000360985.4:p.Ala223=
NM_006420.2:c.669T>C	NP_006411.2:p.Ala223=
XM_005260252.2:c.669T>C	XP_005260309.1:p.Ala223=
XM_005260252.3:c.669T>C	XP_005260309.1:p.Ala223=
NM_006420.3:c.669T>C MANE Select	NP_006411.2:p.Ala223=