Canonical Allele Identifier: CA5967119
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46726615C>T
GRCh37 chr11:g.46748165C>T
Revel Score:
ENST00000311907 (MANE Select) 0.232
ENST00000530231 0.232
ENST00000442468 0.232
gnomAD v2:
11:46748165 C / T
gnomAD v3:
11:46726615 C / T
gnomAD v4:
chr11-46726615-C-T
Joint Max Group AF 0.00009199 (AFR)
Genomes Max Group AF 0.00006267 (AFR)
Exomes Max Group AF 0.00008198 (EAS)
ClinVar Allele:
326804
ClinVar RCV:
RCV000343719
RCV000382049
ClinVar Variation:
304815
dbSNP:
200812621
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726615C>T , CM000673.2:g.46726615C>T GRCh38
NC_000011.9:g.46748165C>T , CM000673.1:g.46748165C>T GRCh37
NC_000011.8:g.46704741C>T NCBI36
NG_008953.1:g.12423C>T , LRG_551:g.12423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.992C>T MANE Select ENSP00000308541.5:p.Ser331Leu
ENST00000311907.9:c.992C>T ENSP00000308541.5:p.Ser331Leu
ENST00000442468.1:c.962C>T ENSP00000387413.1:p.Ser321Leu
ENST00000530231.5:c.992C>T ENSP00000433907.1:p.Ser331Leu
NM_000506.3:c.992C>T NP_000497.1:p.Ser331Leu
NM_000506.4:c.992C>T , LRG_551t1:c.992C>T NP_000497.1:p.Ser331Leu
NM_001311257.1:c.944C>T NP_001298186.1:p.Ser315Leu
XR_428840.2:n.1036C>T
XR_428840.4:n.1027C>T
NM_000506.5:c.992C>T MANE Select NP_000497.1:p.Ser331Leu
NM_001311257.2:c.944C>T NP_001298186.1:p.Ser315Leu
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