Canonical Allele Identifier: CA1139666725
Community Standard Title: NM_006420.3(ARFGEF2):c.*134C>A
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49033333C>A , CM000682.2:g.49033333C>A GRCh38
NC_000020.10:g.47649870C>A , CM000682.1:g.47649870C>A GRCh37
NC_000020.9:g.47083277C>A NCBI36
NG_011490.1:g.116596C>A
NG_011490.2:g.116596C>A

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*134C>A MANE Select NP_006411.2:n.*134C>A
ENST00000371917.5:c.*134C>A MANE Select ENSP00000360985.4:n.*134C>A
NM_006420.2:c.*134C>A NP_006411.2:n.*134C>A
ENST00000371917.4:c.5492C>A ENSP00000360985.4:n.5492C>A
ENST00000679436.1:c.5489C>A ENSP00000504888.1:n.5489C>A
ENST00000679542.1:n.5181C>A
ENST00000679747.1:n.1765C>A
ENST00000680130.1:n.1163C>A
ENST00000681021.1:c.6348C>A ENSP00000505972.1:n.6348C>A
ENST00000681119.1:n.2226C>A
ENST00000681399.1:c.*5169C>A ENSP00000506363.1:n.*5169C>A
ENST00000681885.1:c.5361C>A ENSP00000505737.1:n.5361C>A
XM_005260252.2:c.*134C>A XP_005260309.1:n.*134C>A
XM_005260252.3:c.*134C>A XP_005260309.1:n.*134C>A