Canonical Allele Identifier: CA2367859134
Community Standard Title: NM_006420.3(ARFGEF2):c.3169C= (p.Gln1057=)
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48995830C= , CM000682.2:g.48995830C= GRCh38
NC_000020.10:g.47612367C= , CM000682.1:g.47612367C= GRCh37
NC_000020.9:g.47045774C= NCBI36
NG_011490.1:g.79093C=
NG_011490.2:g.79093C=

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.3169C= MANE Select NP_006411.2:p.Gln1057=
ENST00000371917.5:c.3169C= MANE Select ENSP00000360985.4:p.Gln1057=
NM_006420.2:c.3169C= NP_006411.2:p.Gln1057=
ENST00000371917.4:c.3169C= ENSP00000360985.4:p.Gln1057=
ENST00000679436.1:c.3166C= ENSP00000504888.1:p.Gln1056=
ENST00000679542.1:n.2726C=
ENST00000680635.1:n.2726C=
ENST00000680871.1:c.3017C= ENSP00000505042.1:n.3017C=
ENST00000681021.1:c.3169C= ENSP00000505972.1:p.Gln1057=
ENST00000681399.1:c.*2846C= ENSP00000506363.1:n.*2846C=
ENST00000681656.1:c.3060C= ENSP00000505638.1:n.3060C=
ENST00000681885.1:c.3169C= ENSP00000505737.1:p.Gln1057=
XM_005260252.2:c.3166C= XP_005260309.1:p.Gln1056=
XM_005260252.3:c.3166C= XP_005260309.1:p.Gln1056=