Canonical Allele Identifier: CA14759514
Community Standard Title: NM_006420.3(ARFGEF2):c.3222-65G>A
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48998128G>A , CM000682.2:g.48998128G>A GRCh38
NC_000020.10:g.47614665G>A , CM000682.1:g.47614665G>A GRCh37
NC_000020.9:g.47048072G>A NCBI36
NG_011490.1:g.81391G>A
NG_011490.2:g.81391G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.3222-65G>A MANE Select NP_006411.2:n.3222-65G>A
ENST00000371917.5:c.3222-65G>A MANE Select ENSP00000360985.4:n.3222-65G>A
NM_006420.2:c.3222-65G>A NP_006411.2:n.3222-65G>A
ENST00000371917.4:c.3222-65G>A ENSP00000360985.4:n.3222-65G>A
ENST00000493140.1:n.29G>A
ENST00000679436.1:c.3219-65G>A ENSP00000504888.1:n.3219-65G>A
ENST00000679542.1:n.2779-65G>A
ENST00000680635.1:n.2779-65G>A
ENST00000680871.1:c.3070-65G>A ENSP00000505042.1:n.3070-65G>A
ENST00000681021.1:c.3222-65G>A ENSP00000505972.1:n.3222-65G>A
ENST00000681399.1:c.*2899-65G>A ENSP00000506363.1:n.*2899-65G>A
ENST00000681656.1:c.3113-65G>A ENSP00000505638.1:n.3113-65G>A
ENST00000681885.1:c.3222-65G>A ENSP00000505737.1:n.3222-65G>A
XM_005260252.2:c.3219-65G>A XP_005260309.1:n.3219-65G>A
XM_005260252.3:c.3219-65G>A XP_005260309.1:n.3219-65G>A