Canonical Allele Identifier: CA380265172
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726018C>T , CM000673.2:g.46726018C>T GRCh38
NC_000011.9:g.46747568C>T , CM000673.1:g.46747568C>T GRCh37
NC_000011.8:g.46704144C>T NCBI36
NG_008953.1:g.11826C>T , LRG_551:g.11826C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.719C>T MANE Select ENSP00000308541.5:p.Ala240Val
ENST00000311907.9:c.719C>T ENSP00000308541.5:p.Ala240Val
ENST00000442468.1:c.689C>T ENSP00000387413.1:p.Ala230Val
ENST00000490274.1:n.499C>T
ENST00000530231.5:c.719C>T ENSP00000433907.1:p.Ala240Val
NM_000506.3:c.719C>T NP_000497.1:p.Ala240Val
NM_000506.4:c.719C>T , LRG_551t1:c.719C>T NP_000497.1:p.Ala240Val
NM_001311257.1:c.671C>T NP_001298186.1:p.Ala224Val
XR_428840.2:n.763C>T
XR_428840.4:n.754C>T
NM_000506.5:c.719C>T MANE Select NP_000497.1:p.Ala240Val
NM_001311257.2:c.671C>T NP_001298186.1:p.Ala224Val