Canonical Allele Identifier: CA380264674
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46725870G>T , CM000673.2:g.46725870G>T GRCh38
NC_000011.9:g.46747420G>T , CM000673.1:g.46747420G>T GRCh37
NC_000011.8:g.46703996G>T NCBI36
NG_008953.1:g.11678G>T , LRG_551:g.11678G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.571G>T MANE Select ENSP00000308541.5:p.Val191Phe
ENST00000311907.9:c.571G>T ENSP00000308541.5:p.Val191Phe
ENST00000442468.1:c.541G>T ENSP00000387413.1:p.Val181Phe
ENST00000490274.1:n.351G>T
ENST00000530231.5:c.571G>T ENSP00000433907.1:p.Val191Phe
NM_000506.3:c.571G>T NP_000497.1:p.Val191Phe
NM_000506.4:c.571G>T , LRG_551t1:c.571G>T NP_000497.1:p.Val191Phe
NM_001311257.1:c.523G>T NP_001298186.1:p.Val175Phe
XR_428840.2:n.615G>T
XR_428840.4:n.606G>T
NM_000506.5:c.571G>T MANE Select NP_000497.1:p.Val191Phe
NM_001311257.2:c.523G>T NP_001298186.1:p.Val175Phe