Canonical Allele Identifier: CA380265232
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726030C>T , CM000673.2:g.46726030C>T GRCh38
NC_000011.9:g.46747580C>T , CM000673.1:g.46747580C>T GRCh37
NC_000011.8:g.46704156C>T NCBI36
NG_008953.1:g.11838C>T , LRG_551:g.11838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.731C>T MANE Select ENSP00000308541.5:p.Ala244Val
ENST00000311907.9:c.731C>T ENSP00000308541.5:p.Ala244Val
ENST00000442468.1:c.701C>T ENSP00000387413.1:p.Ala234Val
ENST00000490274.1:n.511C>T
ENST00000530231.5:c.731C>T ENSP00000433907.1:p.Ala244Val
NM_000506.3:c.731C>T NP_000497.1:p.Ala244Val
NM_000506.4:c.731C>T , LRG_551t1:c.731C>T NP_000497.1:p.Ala244Val
NM_001311257.1:c.683C>T NP_001298186.1:p.Ala228Val
XR_428840.2:n.775C>T
XR_428840.4:n.766C>T
NM_000506.5:c.731C>T MANE Select NP_000497.1:p.Ala244Val
NM_001311257.2:c.683C>T NP_001298186.1:p.Ala228Val