Canonical Allele Identifier: CA9898893
Community Standard Title: NM_006420.3(ARFGEF2):c.3274C>T (p.Arg1092Cys)
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48998347C>T , CM000682.2:g.48998347C>T GRCh38
NC_000020.10:g.47614884C>T , CM000682.1:g.47614884C>T GRCh37
NC_000020.9:g.47048291C>T NCBI36
NG_011490.1:g.81610C>T
NG_011490.2:g.81610C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.3274C>T MANE Select NP_006411.2:p.Arg1092Cys
ENST00000371917.5:c.3274C>T MANE Select ENSP00000360985.4:p.Arg1092Cys
NM_006420.2:c.3274C>T NP_006411.2:p.Arg1092Cys
ENST00000371917.4:c.3274C>T ENSP00000360985.4:p.Arg1092Cys
ENST00000493140.1:n.146C>T
ENST00000679436.1:c.3271C>T ENSP00000504888.1:p.Arg1091Cys
ENST00000679542.1:n.2831C>T
ENST00000680635.1:n.2831C>T
ENST00000680871.1:c.3122C>T ENSP00000505042.1:n.3122C>T
ENST00000681021.1:c.3274C>T ENSP00000505972.1:p.Arg1092Cys
ENST00000681399.1:c.*2951C>T ENSP00000506363.1:n.*2951C>T
ENST00000681656.1:c.3165C>T ENSP00000505638.1:n.3165C>T
ENST00000681885.1:c.3274C>T ENSP00000505737.1:p.Arg1092Cys
XM_005260252.2:c.3271C>T XP_005260309.1:p.Arg1091Cys
XM_005260252.3:c.3271C>T XP_005260309.1:p.Arg1091Cys