Canonical Allele Identifier: CA5967282
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46728829G>A
GRCh37 chr11:g.46750379G>A
gnomAD v2:
11:46750379 G / A
gnomAD v3:
11:46728829 G / A
gnomAD v4:
chr11-46728829-G-A
Joint Max Group AF 0.00099009 (NFE)
Genomes Max Group AF 0.00079491 (NFE)
Exomes Max Group AF 0.0009922 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46728829G>A , CM000673.2:g.46728829G>A GRCh38
NC_000011.9:g.46750379G>A , CM000673.1:g.46750379G>A GRCh37
NC_000011.8:g.46706955G>A NCBI36
NG_008953.1:g.14637G>A , LRG_551:g.14637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.1464G>A MANE Select ENSP00000308541.5:p.Thr488=
ENST00000311907.9:c.1464G>A ENSP00000308541.5:p.Thr488=
ENST00000530231.5:c.1355+109G>A ENSP00000433907.1:n.1355+109G>A
NM_000506.3:c.1464G>A NP_000497.1:p.Thr488=
NM_000506.4:c.1464G>A , LRG_551t1:c.1464G>A NP_000497.1:p.Thr488=
NM_001311257.1:c.1416G>A NP_001298186.1:p.Thr472=
XR_428840.2:n.1508G>A
XR_428840.4:n.1499G>A
NM_000506.5:c.1464G>A MANE Select NP_000497.1:p.Thr488=
NM_001311257.2:c.1416G>A NP_001298186.1:p.Thr472=
Search 100 bp 5'
Search 100 bp 3'