Canonical Allele Identifier: CA1018167693

Gene: ARFGEF2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49035590C>T , CM000682.2:g.49035590C>T	GRCh38
NC_000020.10:g.47652127C>T , CM000682.1:g.47652127C>T	GRCh37
NC_000020.9:g.47085534C>T	NCBI36
NG_011490.1:g.118853C>T
NG_011490.2:g.118853C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006420.3:c.*2391C>T MANE Select	NP_006411.2:n.*2391C>T
ENST00000371917.5:c.*2391C>T MANE Select	ENSP00000360985.4:n.*2391C>T
NM_006420.2:c.*2391C>T	NP_006411.2:n.*2391C>T
ENST00000371917.4:c.7749C>T	ENSP00000360985.4:n.7749C>T
ENST00000679436.1:c.7746C>T	ENSP00000504888.1:n.7746C>T
ENST00000679542.1:n.7438C>T
ENST00000680130.1:n.3420C>T
ENST00000681119.1:n.4483C>T
ENST00000681399.1:c.*7426C>T	ENSP00000506363.1:n.*7426C>T
XM_005260252.2:c.*2391C>T	XP_005260309.1:n.*2391C>T
XM_005260252.3:c.*2391C>T	XP_005260309.1:n.*2391C>T