Canonical Allele Identifier: CA5967044

Gene: F2

Linked Data

• ClinVar Variation Id: 2886351
• ClinVar RCV Id: RCV003627091
• dbSNP Id: rs768979247
• ExAC: 11:46747566 C / T
• gnomAD v2: 11-46747566-C-T
• gnomAD v3: 11-46726016-C-T
• gnomAD v4: 11-46726016-C-T
• MyVariant Identifiers: chr11:g.46747566C>T (hg19) ; chr11:g.46726016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726016C>T , CM000673.2:g.46726016C>T	GRCh38
NC_000011.9:g.46747566C>T , CM000673.1:g.46747566C>T	GRCh37
NC_000011.8:g.46704142C>T	NCBI36
NG_008953.1:g.11824C>T , LRG_551:g.11824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.717C>T MANE Select	ENSP00000308541.5:p.Ser239=
ENST00000311907.9:c.717C>T	ENSP00000308541.5:p.Ser239=
ENST00000442468.1:c.687C>T	ENSP00000387413.1:p.Ser229=
ENST00000490274.1:n.497C>T
ENST00000530231.5:c.717C>T	ENSP00000433907.1:p.Ser239=
NM_000506.3:c.717C>T	NP_000497.1:p.Ser239=
NM_000506.4:c.717C>T , LRG_551t1:c.717C>T	NP_000497.1:p.Ser239=
NM_001311257.1:c.669C>T	NP_001298186.1:p.Ser223=
XR_428840.2:n.761C>T
XR_428840.4:n.752C>T
NM_000506.5:c.717C>T MANE Select	NP_000497.1:p.Ser239=
NM_001311257.2:c.669C>T	NP_001298186.1:p.Ser223=