Canonical Allele Identifier: CA090909

Gene: F2

Linked Data

• ClinVar Variation Id: 13302
• ClinVar RCV Id: RCV000014229 ; RCV000994617 ; RCV001108917 ; RCV001108918 ; RCV001794445
• dbSNP Id: rs62623459
• ExAC: 11:46747447 G / A
• gnomAD v2: 11-46747447-G-A
• gnomAD v3: 11-46725897-G-A
• gnomAD v4: 11-46725897-G-A
• MyVariant Identifiers: chr11:g.46747447G>A (hg19) ; chr11:g.46725897G>A (hg38)
• PubMed: PMID:6405779

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725897G>A , CM000673.2:g.46725897G>A	GRCh38
NC_000011.9:g.46747447G>A , CM000673.1:g.46747447G>A	GRCh37
NC_000011.8:g.46704023G>A	NCBI36
NG_008953.1:g.11705G>A , LRG_551:g.11705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.598G>A MANE Select	ENSP00000308541.5:p.Glu200Lys
ENST00000311907.9:c.598G>A	ENSP00000308541.5:p.Glu200Lys
ENST00000442468.1:c.568G>A	ENSP00000387413.1:p.Glu190Lys
ENST00000490274.1:n.378G>A
ENST00000530231.5:c.598G>A	ENSP00000433907.1:p.Glu200Lys
NM_000506.3:c.598G>A	NP_000497.1:p.Glu200Lys
NM_000506.4:c.598G>A , LRG_551t1:c.598G>A	NP_000497.1:p.Glu200Lys
NM_001311257.1:c.550G>A	NP_001298186.1:p.Glu184Lys
XR_428840.2:n.642G>A
XR_428840.4:n.633G>A
NM_000506.5:c.598G>A MANE Select	NP_000497.1:p.Glu200Lys
NM_001311257.2:c.550G>A	NP_001298186.1:p.Glu184Lys