Canonical Allele Identifier: CA5967036

Gene: F2

Linked Data

• dbSNP Id: rs767472475
• ExAC: 11:46747524 G / C
• gnomAD v2: 11-46747524-G-C
• gnomAD v4: 11-46725974-G-C
• MyVariant Identifiers: chr11:g.46747524G>C (hg19) ; chr11:g.46725974G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725974G>C , CM000673.2:g.46725974G>C	GRCh38
NC_000011.9:g.46747524G>C , CM000673.1:g.46747524G>C	GRCh37
NC_000011.8:g.46704100G>C	NCBI36
NG_008953.1:g.11782G>C , LRG_551:g.11782G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.675G>C MANE Select	ENSP00000308541.5:p.Leu225=
ENST00000311907.9:c.675G>C	ENSP00000308541.5:p.Leu225=
ENST00000442468.1:c.645G>C	ENSP00000387413.1:p.Leu215=
ENST00000490274.1:n.455G>C
ENST00000530231.5:c.675G>C	ENSP00000433907.1:p.Leu225=
NM_000506.3:c.675G>C	NP_000497.1:p.Leu225=
NM_000506.4:c.675G>C , LRG_551t1:c.675G>C	NP_000497.1:p.Leu225=
NM_001311257.1:c.627G>C	NP_001298186.1:p.Leu209=
XR_428840.2:n.719G>C
XR_428840.4:n.710G>C
NM_000506.5:c.675G>C MANE Select	NP_000497.1:p.Leu225=
NM_001311257.2:c.627G>C	NP_001298186.1:p.Leu209=