Canonical Allele Identifier: CA511014011
Gene: ARFGEF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.47570146T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48953609T>C , CM000682.2:g.48953609T>C GRCh38
NC_000020.10:g.47570146T>C , CM000682.1:g.47570146T>C GRCh37
NC_000020.9:g.47003553T>C NCBI36
NG_011490.1:g.36872T>C
NG_011490.2:g.36872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371917.5:c.657T>C MANE Select ENSP00000360985.4:p.Pro219=
ENST00000679436.1:c.657T>C ENSP00000504888.1:p.Pro219=
ENST00000679542.1:n.214T>C
ENST00000680635.1:n.214T>C
ENST00000680871.1:c.657T>C ENSP00000505042.1:p.Pro219=
ENST00000681021.1:c.657T>C ENSP00000505972.1:p.Pro219=
ENST00000681399.1:c.*340T>C ENSP00000506363.1:n.*340T>C
ENST00000681656.1:c.657T>C ENSP00000505638.1:p.Pro219=
ENST00000681885.1:c.657T>C ENSP00000505737.1:p.Pro219=
ENST00000371917.4:c.657T>C ENSP00000360985.4:p.Pro219=
NM_006420.2:c.657T>C NP_006411.2:p.Pro219=
XM_005260252.2:c.657T>C XP_005260309.1:p.Pro219=
XM_005260252.3:c.657T>C XP_005260309.1:p.Pro219=
NM_006420.3:c.657T>C MANE Select NP_006411.2:p.Pro219=