Canonical Allele Identifier: CA345766

Gene: F2

Linked Data

• ClinVar Variation Id: 143996
• ClinVar RCV Id: RCV000133511 ; RCV001618292 ; RCV002492519
• dbSNP Id: rs3136516
• gnomAD v2: 11-46760756-G-A
• gnomAD v3: 11-46739206-G-A
• gnomAD v4: 11-46739206-G-A
• MyVariant Identifiers: chr11:g.46760756G>A (hg19) ; chr11:g.46739206G>A (hg38)
• PubMed: PMID:20301327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46739206G>A , CM000673.2:g.46739206G>A	GRCh38
NC_000011.9:g.46760756G>A , CM000673.1:g.46760756G>A	GRCh37
NC_000011.8:g.46717332G>A	NCBI36
NG_008953.1:g.25014G>A , LRG_551:g.25014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1726-59G>A MANE Select	ENSP00000308541.5:n.1726-59G>A
ENST00000311907.9:c.1726-59G>A	ENSP00000308541.5:n.1726-59G>A
ENST00000530231.5:c.1609-59G>A	ENSP00000433907.1:n.1609-59G>A
NM_000506.3:c.1726-59G>A	NP_000497.1:n.1726-59G>A
NM_000506.4:c.1726-59G>A , LRG_551t1:c.1726-59G>A	NP_000497.1:n.1726-59G>A
NM_001311257.1:c.1678-59G>A	NP_001298186.1:n.1678-59G>A
XR_428840.2:n.1588-59G>A
XR_428840.4:n.1579-59G>A
NM_000506.5:c.1726-59G>A MANE Select	NP_000497.1:n.1726-59G>A
NM_001311257.2:c.1678-59G>A	NP_001298186.1:n.1678-59G>A