Canonical Allele Identifier: CA5967023

Gene: F2

Linked Data

• ClinVar Variation Id: 2884617
• ClinVar RCV Id: RCV003626571
• dbSNP Id: rs746360345
• ExAC: 11:46747476 A / G
• gnomAD v2: 11-46747476-A-G
• gnomAD v4: 11-46725926-A-G
• MyVariant Identifiers: chr11:g.46747476A>G (hg19) ; chr11:g.46725926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725926A>G , CM000673.2:g.46725926A>G	GRCh38
NC_000011.9:g.46747476A>G , CM000673.1:g.46747476A>G	GRCh37
NC_000011.8:g.46704052A>G	NCBI36
NG_008953.1:g.11734A>G , LRG_551:g.11734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.627A>G MANE Select	ENSP00000308541.5:p.Pro209=
ENST00000311907.9:c.627A>G	ENSP00000308541.5:p.Pro209=
ENST00000442468.1:c.597A>G	ENSP00000387413.1:p.Pro199=
ENST00000490274.1:n.407A>G
ENST00000530231.5:c.627A>G	ENSP00000433907.1:p.Pro209=
NM_000506.3:c.627A>G	NP_000497.1:p.Pro209=
NM_000506.4:c.627A>G , LRG_551t1:c.627A>G	NP_000497.1:p.Pro209=
NM_001311257.1:c.579A>G	NP_001298186.1:p.Pro193=
XR_428840.2:n.671A>G
XR_428840.4:n.662A>G
NM_000506.5:c.627A>G MANE Select	NP_000497.1:p.Pro209=
NM_001311257.2:c.579A>G	NP_001298186.1:p.Pro193=