Canonical Allele Identifier: CA409304487
Community Standard Title: NM_006420.3(ARFGEF2):c.2147A>G (p.Asp716Gly)
Gene: ARFGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.48985484A>G , CM000682.2:g.48985484A>G GRCh38
NC_000020.10:g.47602021A>G , CM000682.1:g.47602021A>G GRCh37
NC_000020.9:g.47035428A>G NCBI36
NG_011490.1:g.68747A>G
NG_011490.2:g.68747A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006420.3:c.2147A>G MANE Select NP_006411.2:p.Asp716Gly
ENST00000371917.5:c.2147A>G MANE Select ENSP00000360985.4:p.Asp716Gly
NM_006420.2:c.2147A>G NP_006411.2:p.Asp716Gly
ENST00000371917.4:c.2147A>G ENSP00000360985.4:p.Asp716Gly
ENST00000679436.1:c.2144A>G ENSP00000504888.1:p.Asp715Gly
ENST00000679542.1:n.1704A>G
ENST00000680635.1:n.1704A>G
ENST00000680871.1:c.1995A>G ENSP00000505042.1:n.1995A>G
ENST00000681021.1:c.2147A>G ENSP00000505972.1:p.Asp716Gly
ENST00000681399.1:c.*1824A>G ENSP00000506363.1:n.*1824A>G
ENST00000681656.1:c.2038A>G ENSP00000505638.1:n.2038A>G
ENST00000681885.1:c.2147A>G ENSP00000505737.1:p.Asp716Gly
XM_005260252.2:c.2144A>G XP_005260309.1:p.Asp715Gly
XM_005260252.3:c.2144A>G XP_005260309.1:p.Asp715Gly