Canonical Allele Identifier: CA123013
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46728157G>A
GRCh37 chr11:g.46749707G>A
Revel Score:
ENST00000311907 (MANE Select) 0.910
ENST00000530231 0.910
gnomAD v2:
11:46749707 G / A
gnomAD v4:
chr11-46728157-G-A
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000014235
ClinVar Variation:
13308
dbSNP:
121918482
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46728157G>A , CM000673.2:g.46728157G>A GRCh38
NC_000011.9:g.46749707G>A , CM000673.1:g.46749707G>A GRCh37
NC_000011.8:g.46706283G>A NCBI36
NG_008953.1:g.13965G>A , LRG_551:g.13965G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.1292G>A MANE Select ENSP00000308541.5:p.Arg431His
ENST00000311907.9:c.1292G>A ENSP00000308541.5:p.Arg431His
ENST00000530231.5:c.1292G>A ENSP00000433907.1:p.Arg431His
NM_000506.3:c.1292G>A NP_000497.1:p.Arg431His
NM_000506.4:c.1292G>A , LRG_551t1:c.1292G>A NP_000497.1:p.Arg431His
NM_001311257.1:c.1244G>A NP_001298186.1:p.Arg415His
XR_428840.2:n.1336G>A
XR_428840.4:n.1327G>A
NM_000506.5:c.1292G>A MANE Select NP_000497.1:p.Arg431His
NM_001311257.2:c.1244G>A NP_001298186.1:p.Arg415His
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