Canonical Allele Identifier: CA474043761

Gene: F2

Linked Data

• ClinVar Variation Id: 2903973
• ClinVar RCV Id: RCV003627338
• dbSNP Id: rs2134531857
• gnomAD v4: 11-46726061-T-C
• MyVariant Identifiers: chr11:g.46747611T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726061T>C , CM000673.2:g.46726061T>C	GRCh38
NC_000011.9:g.46747611T>C , CM000673.1:g.46747611T>C	GRCh37
NC_000011.8:g.46704187T>C	NCBI36
NG_008953.1:g.11869T>C , LRG_551:g.11869T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.762T>C MANE Select	ENSP00000308541.5:p.Ala254=
ENST00000311907.9:c.762T>C	ENSP00000308541.5:p.Ala254=
ENST00000442468.1:c.732T>C	ENSP00000387413.1:p.Ala244=
ENST00000490274.1:n.542T>C
ENST00000530231.5:c.762T>C	ENSP00000433907.1:p.Ala254=
NM_000506.3:c.762T>C	NP_000497.1:p.Ala254=
NM_000506.4:c.762T>C , LRG_551t1:c.762T>C	NP_000497.1:p.Ala254=
NM_001311257.1:c.714T>C	NP_001298186.1:p.Ala238=
XR_428840.2:n.806T>C
XR_428840.4:n.797T>C
NM_000506.5:c.762T>C MANE Select	NP_000497.1:p.Ala254=
NM_001311257.2:c.714T>C	NP_001298186.1:p.Ala238=