Canonical Allele Identifier: CA5967032
Gene: F2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1809637
ClinVar RCV Id: RCV002481196 RCV003626803 RCV003269173
dbSNP Id: rs762892196
ExAC: 11:46747499 G / A
gnomAD v2: 11-46747499-G-A
gnomAD v3: 11-46725949-G-A
gnomAD v4: 11-46725949-G-A
COSMIC: COSM927290
MyVariant Identifiers: chr11:g.46747499G>A (hg19) chr11:g.46725949G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46725949G>A , CM000673.2:g.46725949G>A GRCh38
NC_000011.9:g.46747499G>A , CM000673.1:g.46747499G>A GRCh37
NC_000011.8:g.46704075G>A NCBI36
NG_008953.1:g.11757G>A , LRG_551:g.11757G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.650G>A MANE Select ENSP00000308541.5:p.Arg217Gln
ENST00000311907.9:c.650G>A ENSP00000308541.5:p.Arg217Gln
ENST00000442468.1:c.620G>A ENSP00000387413.1:p.Arg207Gln
ENST00000490274.1:n.430G>A
ENST00000530231.5:c.650G>A ENSP00000433907.1:p.Arg217Gln
NM_000506.3:c.650G>A NP_000497.1:p.Arg217Gln
NM_000506.4:c.650G>A , LRG_551t1:c.650G>A NP_000497.1:p.Arg217Gln
NM_001311257.1:c.602G>A NP_001298186.1:p.Arg201Gln
XR_428840.2:n.694G>A
XR_428840.4:n.685G>A
NM_000506.5:c.650G>A MANE Select NP_000497.1:p.Arg217Gln
NM_001311257.2:c.602G>A NP_001298186.1:p.Arg201Gln
Search 100 bp 5'
Search 100 bp 3'