Canonical Allele Identifier: CA380266730

Gene: F2

Linked Data

• ClinVar Variation Id: 2273425
• ClinVar RCV Id: RCV002826402
• gnomAD v4: 11-46726563-C-A
• MyVariant Identifiers: chr11:g.46748113C>A (hg19) ; chr11:g.46726563C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.940C>A MANE Select	ENSP00000308541.5:p.Arg314Ser
ENST00000311907.9:c.940C>A	ENSP00000308541.5:p.Arg314Ser
ENST00000442468.1:c.910C>A	ENSP00000387413.1:p.Arg304Ser
ENST00000530231.5:c.940C>A	ENSP00000433907.1:p.Arg314Ser
NM_000506.3:c.940C>A	NP_000497.1:p.Arg314Ser
NM_000506.4:c.940C>A , LRG_551t1:c.940C>A	NP_000497.1:p.Arg314Ser
NM_001311257.1:c.892C>A	NP_001298186.1:p.Arg298Ser
XR_428840.2:n.984C>A
XR_428840.4:n.975C>A
NM_000506.5:c.940C>A MANE Select	NP_000497.1:p.Arg314Ser
NM_001311257.2:c.892C>A	NP_001298186.1:p.Arg298Ser