Canonical Allele Identifier: CA380265119
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726006C>T , CM000673.2:g.46726006C>T GRCh38
NC_000011.9:g.46747556C>T , CM000673.1:g.46747556C>T GRCh37
NC_000011.8:g.46704132C>T NCBI36
NG_008953.1:g.11814C>T , LRG_551:g.11814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.707C>T MANE Select ENSP00000308541.5:p.Ala236Val
ENST00000311907.9:c.707C>T ENSP00000308541.5:p.Ala236Val
ENST00000442468.1:c.677C>T ENSP00000387413.1:p.Ala226Val
ENST00000490274.1:n.487C>T
ENST00000530231.5:c.707C>T ENSP00000433907.1:p.Ala236Val
NM_000506.3:c.707C>T NP_000497.1:p.Ala236Val
NM_000506.4:c.707C>T , LRG_551t1:c.707C>T NP_000497.1:p.Ala236Val
NM_001311257.1:c.659C>T NP_001298186.1:p.Ala220Val
XR_428840.2:n.751C>T
XR_428840.4:n.742C>T
NM_000506.5:c.707C>T MANE Select NP_000497.1:p.Ala236Val
NM_001311257.2:c.659C>T NP_001298186.1:p.Ala220Val