Canonical Allele Identifier: CA5967321

Gene: F2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46729450G>A , CM000673.2:g.46729450G>A	GRCh38
NC_000011.9:g.46751000G>A , CM000673.1:g.46751000G>A	GRCh37
NC_000011.8:g.46707576G>A	NCBI36
NG_008953.1:g.15258G>A , LRG_551:g.15258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1543G>A MANE Select	ENSP00000308541.5:p.Val515Ile
ENST00000311907.9:c.1543G>A	ENSP00000308541.5:p.Val515Ile
ENST00000530231.5:c.1426G>A	ENSP00000433907.1:p.Val476Ile
NM_000506.3:c.1543G>A	NP_000497.1:p.Val515Ile
NM_000506.4:c.1543G>A , LRG_551t1:c.1543G>A	NP_000497.1:p.Val515Ile
NM_001311257.1:c.1495G>A	NP_001298186.1:p.Val499Ile
XR_428840.2:n.1516+613G>A
XR_428840.4:n.1507+613G>A
NM_000506.5:c.1543G>A MANE Select	NP_000497.1:p.Val515Ile
NM_001311257.2:c.1495G>A	NP_001298186.1:p.Val499Ile