Canonical Allele Identifier: CA5966954
Gene: F2 HGNC NCBI
COSMIC:
COSM147179 (not active)
MyVariant.info:
GRCh38 chr11:g.46723375G>C
GRCh37 chr11:g.46744925G>C
gnomAD v2:
11:46744925 G / C
gnomAD v3:
11:46723375 G / C
gnomAD v4:
chr11-46723375-G-C
Joint Max Group AF 0.69285817 (NFE)
Genomes Max Group AF 0.68730096 (NFE)
Exomes Max Group AF 0.69291547 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46723375G>C , CM000673.2:g.46723375G>C GRCh38
NC_000011.9:g.46744925G>C , CM000673.1:g.46744925G>C GRCh37
NC_000011.8:g.46701501G>C NCBI36
NG_008953.1:g.9183G>C , LRG_551:g.9183G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.423-7G>C MANE Select ENSP00000308541.5:n.423-7G>C
ENST00000311907.9:c.423-7G>C ENSP00000308541.5:n.423-7G>C
ENST00000442468.1:c.393-7G>C ENSP00000387413.1:n.393-7G>C
ENST00000490274.1:n.196G>C
ENST00000530231.5:c.423-7G>C ENSP00000433907.1:n.423-7G>C
NM_000506.3:c.423-7G>C NP_000497.1:n.423-7G>C
NM_000506.4:c.423-7G>C , LRG_551t1:c.423-7G>C NP_000497.1:n.423-7G>C
NM_001311257.1:c.375-7G>C NP_001298186.1:n.375-7G>C
XR_428840.2:n.467-7G>C
XR_428840.4:n.458-7G>C
NM_000506.5:c.423-7G>C MANE Select NP_000497.1:n.423-7G>C
NM_001311257.2:c.375-7G>C NP_001298186.1:n.375-7G>C
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