Canonical Allele Identifier: CA10649859

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49035717A>G , CM000682.2:g.49035717A>G	GRCh38
NC_000020.10:g.47652254A>G , CM000682.1:g.47652254A>G	GRCh37
NC_000020.9:g.47085661A>G	NCBI36
NG_011490.1:g.118980A>G
NG_011490.2:g.118980A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.*2518A>G MANE Select	NP_006411.2:n.*2518A>G
ENST00000371917.5:c.*2518A>G MANE Select	ENSP00000360985.4:n.*2518A>G
NM_006420.2:c.*2518A>G	NP_006411.2:n.*2518A>G
ENST00000371917.4:c.7876A>G	ENSP00000360985.4:n.7876A>G
ENST00000679436.1:c.7873A>G	ENSP00000504888.1:n.7873A>G
ENST00000679542.1:n.7565A>G
ENST00000680130.1:n.3547A>G
ENST00000681119.1:n.4610A>G
ENST00000681399.1:c.*7553A>G	ENSP00000506363.1:n.*7553A>G
XM_005260252.2:c.*2518A>G	XP_005260309.1:n.*2518A>G
XM_005260252.3:c.*2518A>G	XP_005260309.1:n.*2518A>G