Canonical Allele Identifier: CA380265142
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726012C>T , CM000673.2:g.46726012C>T GRCh38
NC_000011.9:g.46747562C>T , CM000673.1:g.46747562C>T GRCh37
NC_000011.8:g.46704138C>T NCBI36
NG_008953.1:g.11820C>T , LRG_551:g.11820C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.713C>T MANE Select ENSP00000308541.5:p.Ala238Val
ENST00000311907.9:c.713C>T ENSP00000308541.5:p.Ala238Val
ENST00000442468.1:c.683C>T ENSP00000387413.1:p.Ala228Val
ENST00000490274.1:n.493C>T
ENST00000530231.5:c.713C>T ENSP00000433907.1:p.Ala238Val
NM_000506.3:c.713C>T NP_000497.1:p.Ala238Val
NM_000506.4:c.713C>T , LRG_551t1:c.713C>T NP_000497.1:p.Ala238Val
NM_001311257.1:c.665C>T NP_001298186.1:p.Ala222Val
XR_428840.2:n.757C>T
XR_428840.4:n.748C>T
NM_000506.5:c.713C>T MANE Select NP_000497.1:p.Ala238Val
NM_001311257.2:c.665C>T NP_001298186.1:p.Ala222Val