Canonical Allele Identifier: CA123003
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46726563C>T
GRCh37 chr11:g.46748113C>T
Revel Score:
ENST00000311907 (MANE Select) 0.850
ENST00000530231 0.850
ENST00000442468 0.850
ClinVar RCV:
RCV002468924
ClinVar Variation:
13303
dbSNP:
121918477
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726563C>T , CM000673.2:g.46726563C>T GRCh38
NC_000011.9:g.46748113C>T , CM000673.1:g.46748113C>T GRCh37
NC_000011.8:g.46704689C>T NCBI36
NG_008953.1:g.12371C>T , LRG_551:g.12371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.940C>T MANE Select ENSP00000308541.5:p.Arg314Cys
ENST00000311907.9:c.940C>T ENSP00000308541.5:p.Arg314Cys
ENST00000442468.1:c.910C>T ENSP00000387413.1:p.Arg304Cys
ENST00000530231.5:c.940C>T ENSP00000433907.1:p.Arg314Cys
NM_000506.3:c.940C>T NP_000497.1:p.Arg314Cys
NM_000506.4:c.940C>T , LRG_551t1:c.940C>T NP_000497.1:p.Arg314Cys
NM_001311257.1:c.892C>T NP_001298186.1:p.Arg298Cys
XR_428840.2:n.984C>T
XR_428840.4:n.975C>T
NM_000506.5:c.940C>T MANE Select NP_000497.1:p.Arg314Cys
NM_001311257.2:c.892C>T NP_001298186.1:p.Arg298Cys
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