Canonical Allele Identifier: CA380269670
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46728088T>A , CM000673.2:g.46728088T>A GRCh38
NC_000011.9:g.46749638T>A , CM000673.1:g.46749638T>A GRCh37
NC_000011.8:g.46706214T>A NCBI36
NG_008953.1:g.13896T>A , LRG_551:g.13896T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.1223T>A MANE Select ENSP00000308541.5:p.Leu408His
ENST00000311907.9:c.1223T>A ENSP00000308541.5:p.Leu408His
ENST00000530231.5:c.1223T>A ENSP00000433907.1:p.Leu408His
NM_000506.3:c.1223T>A NP_000497.1:p.Leu408His
NM_000506.4:c.1223T>A , LRG_551t1:c.1223T>A NP_000497.1:p.Leu408His
NM_001311257.1:c.1175T>A NP_001298186.1:p.Leu392His
XR_428840.2:n.1267T>A
XR_428840.4:n.1258T>A
NM_000506.5:c.1223T>A MANE Select NP_000497.1:p.Leu408His
NM_001311257.2:c.1175T>A NP_001298186.1:p.Leu392His