Canonical Allele Identifier: CA5967205

Gene: F2

Linked Data

• ClinVar Variation Id: 2727944
• ClinVar RCV Id: RCV003514247
• dbSNP Id: rs760152916
• ExAC: 11:46749573 C / G
• gnomAD v2: 11-46749573-C-G
• gnomAD v4: 11-46728023-C-G
• MyVariant Identifiers: chr11:g.46749573C>G (hg19) ; chr11:g.46728023C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728023C>G , CM000673.2:g.46728023C>G	GRCh38
NC_000011.9:g.46749573C>G , CM000673.1:g.46749573C>G	GRCh37
NC_000011.8:g.46706149C>G	NCBI36
NG_008953.1:g.13831C>G , LRG_551:g.13831C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1158C>G MANE Select	ENSP00000308541.5:p.Pro386=
ENST00000311907.9:c.1158C>G	ENSP00000308541.5:p.Pro386=
ENST00000530231.5:c.1158C>G	ENSP00000433907.1:p.Pro386=
NM_000506.3:c.1158C>G	NP_000497.1:p.Pro386=
NM_000506.4:c.1158C>G , LRG_551t1:c.1158C>G	NP_000497.1:p.Pro386=
NM_001311257.1:c.1110C>G	NP_001298186.1:p.Pro370=
XR_428840.2:n.1202C>G
XR_428840.4:n.1193C>G
NM_000506.5:c.1158C>G MANE Select	NP_000497.1:p.Pro386=
NM_001311257.2:c.1110C>G	NP_001298186.1:p.Pro370=