Canonical Allele Identifier: CA2739270427
Gene: F2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2872207
ClinVar RCV Id: RCV003626396

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726546_46726549del , CM000673.2:g.46726546_46726549del GRCh38
NC_000011.9:g.46748096_46748099del , CM000673.1:g.46748096_46748099del GRCh37
NC_000011.8:g.46704672_46704675del NCBI36
NG_008953.1:g.12354_12357del , LRG_551:g.12354_12357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.923_926del MANE Select ENSP00000308541.5:p.Asp308GlyfsTer?
ENST00000311907.9:c.923_926del ENSP00000308541.5:p.Asp308GlyfsTer?
ENST00000442468.1:c.893_896del ENSP00000387413.1:p.Asp298GlyfsTer?
ENST00000530231.5:c.923_926del ENSP00000433907.1:p.Asp308GlyfsTer?
NM_000506.3:c.923_926del NP_000497.1:p.Asp308GlyfsTer?
NM_000506.4:c.923_926del , LRG_551t1:c.923_926del NP_000497.1:p.Asp308GlyfsTer?
NM_001311257.1:c.875_878del NP_001298186.1:p.Asp292GlyfsTer?
XR_428840.2:n.967_970del
XR_428840.4:n.958_961del
NM_000506.5:c.923_926del MANE Select NP_000497.1:p.Asp308GlyfsTer?
NM_001311257.2:c.875_878del NP_001298186.1:p.Asp292GlyfsTer?