Canonical Allele Identifier: CA474043721

Gene: F2

Linked Data

• dbSNP Id: rs1376894619
• gnomAD v2: 11-46747552-C-T
• gnomAD v4: 11-46726002-C-T
• MyVariant Identifiers: chr11:g.46747552C>T (hg19) ; chr11:g.46726002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726002C>T , CM000673.2:g.46726002C>T	GRCh38
NC_000011.9:g.46747552C>T , CM000673.1:g.46747552C>T	GRCh37
NC_000011.8:g.46704128C>T	NCBI36
NG_008953.1:g.11810C>T , LRG_551:g.11810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.703C>T MANE Select	ENSP00000308541.5:p.Leu235=
ENST00000311907.9:c.703C>T	ENSP00000308541.5:p.Leu235=
ENST00000442468.1:c.673C>T	ENSP00000387413.1:p.Leu225=
ENST00000490274.1:n.483C>T
ENST00000530231.5:c.703C>T	ENSP00000433907.1:p.Leu235=
NM_000506.3:c.703C>T	NP_000497.1:p.Leu235=
NM_000506.4:c.703C>T , LRG_551t1:c.703C>T	NP_000497.1:p.Leu235=
NM_001311257.1:c.655C>T	NP_001298186.1:p.Leu219=
XR_428840.2:n.747C>T
XR_428840.4:n.738C>T
NM_000506.5:c.703C>T MANE Select	NP_000497.1:p.Leu235=
NM_001311257.2:c.655C>T	NP_001298186.1:p.Leu219=