Canonical Allele Identifier: CA636178878
Community Standard Title: NM_006420.3(ARFGEF2):c.*29T>C
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49033228T>C , CM000682.2:g.49033228T>C GRCh38
NC_000020.10:g.47649765T>C , CM000682.1:g.47649765T>C GRCh37
NC_000020.9:g.47083172T>C NCBI36
NG_011490.1:g.116491T>C
NG_011490.2:g.116491T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.*29T>C MANE Select NP_006411.2:n.*29T>C
ENST00000371917.5:c.*29T>C MANE Select ENSP00000360985.4:n.*29T>C
NM_006420.2:c.*29T>C NP_006411.2:n.*29T>C
ENST00000371917.4:c.5387T>C ENSP00000360985.4:n.5387T>C
ENST00000679436.1:c.5384T>C ENSP00000504888.1:n.5384T>C
ENST00000679542.1:n.5076T>C
ENST00000679747.1:n.1660T>C
ENST00000680130.1:n.1058T>C
ENST00000681021.1:c.6243T>C ENSP00000505972.1:n.6243T>C
ENST00000681119.1:n.2121T>C
ENST00000681399.1:c.*5064T>C ENSP00000506363.1:n.*5064T>C
ENST00000681885.1:c.5256T>C ENSP00000505737.1:n.5256T>C
XM_005260252.2:c.*29T>C XP_005260309.1:n.*29T>C
XM_005260252.3:c.*29T>C XP_005260309.1:n.*29T>C