Canonical Allele Identifier: CA380269194

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46749561C>G (hg19) ; chr11:g.46728011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728011C>G , CM000673.2:g.46728011C>G	GRCh38
NC_000011.9:g.46749561C>G , CM000673.1:g.46749561C>G	GRCh37
NC_000011.8:g.46706137C>G	NCBI36
NG_008953.1:g.13819C>G , LRG_551:g.13819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1146C>G MANE Select	ENSP00000308541.5:p.Phe382Leu
ENST00000311907.9:c.1146C>G	ENSP00000308541.5:p.Phe382Leu
ENST00000530231.5:c.1146C>G	ENSP00000433907.1:p.Phe382Leu
NM_000506.3:c.1146C>G	NP_000497.1:p.Phe382Leu
NM_000506.4:c.1146C>G , LRG_551t1:c.1146C>G	NP_000497.1:p.Phe382Leu
NM_001311257.1:c.1098C>G	NP_001298186.1:p.Phe366Leu
XR_428840.2:n.1190C>G
XR_428840.4:n.1181C>G
NM_000506.5:c.1146C>G MANE Select	NP_000497.1:p.Phe382Leu
NM_001311257.2:c.1098C>G	NP_001298186.1:p.Phe366Leu