Canonical Allele Identifier: CA1969072235

Gene: F2

Linked Data

• dbSNP Id: rs2064870582

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726108_46726110del , CM000673.2:g.46726108_46726110del	GRCh38
NC_000011.9:g.46747658_46747660del , CM000673.1:g.46747658_46747660del	GRCh37
NC_000011.8:g.46704234_46704236del	NCBI36
NG_008953.1:g.11916_11918del , LRG_551:g.11916_11918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.809_811del MANE Select	ENSP00000308541.5:p.Glu270del
ENST00000311907.9:c.809_811del	ENSP00000308541.5:p.Glu270del
ENST00000442468.1:c.779_781del	ENSP00000387413.1:p.Glu260del
ENST00000530231.5:c.809_811del	ENSP00000433907.1:p.Glu270del
NM_000506.3:c.809_811del	NP_000497.1:p.Glu270del
NM_000506.4:c.809_811del , LRG_551t1:c.809_811del	NP_000497.1:p.Glu270del
NM_001311257.1:c.761_763del	NP_001298186.1:p.Glu254del
XR_428840.2:n.853_855del
XR_428840.4:n.844_846del
NM_000506.5:c.809_811del MANE Select	NP_000497.1:p.Glu270del
NM_001311257.2:c.761_763del	NP_001298186.1:p.Glu254del