Canonical Allele Identifier: CA221653860

Gene: F2

Linked Data

• ClinVar Variation Id: 2789893
• ClinVar RCV Id: RCV003627058
• dbSNP Id: rs573385773
• gnomAD v2: 11-46749530-C-T
• gnomAD v3: 11-46727980-C-T
• gnomAD v4: 11-46727980-C-T
• MyVariant Identifiers: chr11:g.46749530C>T (hg19) ; chr11:g.46727980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46727980C>T , CM000673.2:g.46727980C>T	GRCh38
NC_000011.9:g.46749530C>T , CM000673.1:g.46749530C>T	GRCh37
NC_000011.8:g.46706106C>T	NCBI36
NG_008953.1:g.13788C>T , LRG_551:g.13788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1131-16C>T MANE Select	ENSP00000308541.5:n.1131-16C>T
ENST00000311907.9:c.1131-16C>T	ENSP00000308541.5:n.1131-16C>T
ENST00000530231.5:c.1131-16C>T	ENSP00000433907.1:n.1131-16C>T
NM_000506.3:c.1131-16C>T	NP_000497.1:n.1131-16C>T
NM_000506.4:c.1131-16C>T , LRG_551t1:c.1131-16C>T	NP_000497.1:n.1131-16C>T
NM_001311257.1:c.1083-16C>T	NP_001298186.1:n.1083-16C>T
XR_428840.2:n.1175-16C>T
XR_428840.4:n.1166-16C>T
NM_000506.5:c.1131-16C>T MANE Select	NP_000497.1:n.1131-16C>T
NM_001311257.2:c.1083-16C>T	NP_001298186.1:n.1083-16C>T