Canonical Allele Identifier: CA1139666727
Community Standard Title: NM_006420.3(ARFGEF2):c.*866T>C
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49034065T>C , CM000682.2:g.49034065T>C GRCh38
NC_000020.10:g.47650602T>C , CM000682.1:g.47650602T>C GRCh37
NC_000020.9:g.47084009T>C NCBI36
NG_011490.1:g.117328T>C
NG_011490.2:g.117328T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*866T>C MANE Select NP_006411.2:n.*866T>C
ENST00000371917.5:c.*866T>C MANE Select ENSP00000360985.4:n.*866T>C
NM_006420.2:c.*866T>C NP_006411.2:n.*866T>C
ENST00000371917.4:c.6224T>C ENSP00000360985.4:n.6224T>C
ENST00000679436.1:c.6221T>C ENSP00000504888.1:n.6221T>C
ENST00000679542.1:n.5913T>C
ENST00000679747.1:n.2497T>C
ENST00000680130.1:n.1895T>C
ENST00000681119.1:n.2958T>C
ENST00000681399.1:c.*5901T>C ENSP00000506363.1:n.*5901T>C
XM_005260252.2:c.*866T>C XP_005260309.1:n.*866T>C
XM_005260252.3:c.*866T>C XP_005260309.1:n.*866T>C