Canonical Allele Identifier: CA5967057

Gene: F2

Linked Data

• ClinVar Variation Id: 877749
• ClinVar RCV Id: RCV001103760 ; RCV001103759
• dbSNP Id: rs199558597
• ExAC: 11:46747663 G / A
• gnomAD v2: 11-46747663-G-A
• gnomAD v3: 11-46726113-G-A
• gnomAD v4: 11-46726113-G-A
• MyVariant Identifiers: chr11:g.46747663G>A (hg19) ; chr11:g.46726113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726113G>A , CM000673.2:g.46726113G>A	GRCh38
NC_000011.9:g.46747663G>A , CM000673.1:g.46747663G>A	GRCh37
NC_000011.8:g.46704239G>A	NCBI36
NG_008953.1:g.11921G>A , LRG_551:g.11921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.814G>A MANE Select	ENSP00000308541.5:p.Val272Met
ENST00000311907.9:c.814G>A	ENSP00000308541.5:p.Val272Met
ENST00000442468.1:c.784G>A	ENSP00000387413.1:p.Val262Met
ENST00000530231.5:c.814G>A	ENSP00000433907.1:p.Val272Met
NM_000506.3:c.814G>A	NP_000497.1:p.Val272Met
NM_000506.4:c.814G>A , LRG_551t1:c.814G>A	NP_000497.1:p.Val272Met
NM_001311257.1:c.766G>A	NP_001298186.1:p.Val256Met
XR_428840.2:n.858G>A
XR_428840.4:n.849G>A
NM_000506.5:c.814G>A MANE Select	NP_000497.1:p.Val272Met
NM_001311257.2:c.766G>A	NP_001298186.1:p.Val256Met