Canonical Allele Identifier: CA380264761
Gene: F2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46725907G>A
GRCh37 chr11:g.46747457G>A
Revel Score:
ENST00000311907 (MANE Select) 0.117
ENST00000530231 0.117
ENST00000442468 0.117
gnomAD v4:
chr11-46725907-G-A
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00002003 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46725907G>A , CM000673.2:g.46725907G>A GRCh38
NC_000011.9:g.46747457G>A , CM000673.1:g.46747457G>A GRCh37
NC_000011.8:g.46704033G>A NCBI36
NG_008953.1:g.11715G>A , LRG_551:g.11715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.608G>A MANE Select ENSP00000308541.5:p.Ser203Asn
ENST00000311907.9:c.608G>A ENSP00000308541.5:p.Ser203Asn
ENST00000442468.1:c.578G>A ENSP00000387413.1:p.Ser193Asn
ENST00000490274.1:n.388G>A
ENST00000530231.5:c.608G>A ENSP00000433907.1:p.Ser203Asn
NM_000506.3:c.608G>A NP_000497.1:p.Ser203Asn
NM_000506.4:c.608G>A , LRG_551t1:c.608G>A NP_000497.1:p.Ser203Asn
NM_001311257.1:c.560G>A NP_001298186.1:p.Ser187Asn
XR_428840.2:n.652G>A
XR_428840.4:n.643G>A
NM_000506.5:c.608G>A MANE Select NP_000497.1:p.Ser203Asn
NM_001311257.2:c.560G>A NP_001298186.1:p.Ser187Asn
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