Canonical Allele Identifier: CA380269348

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46749584T>A (hg19) ; chr11:g.46728034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728034T>A , CM000673.2:g.46728034T>A	GRCh38
NC_000011.9:g.46749584T>A , CM000673.1:g.46749584T>A	GRCh37
NC_000011.8:g.46706160T>A	NCBI36
NG_008953.1:g.13842T>A , LRG_551:g.13842T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1169T>A MANE Select	ENSP00000308541.5:p.Leu390Gln
ENST00000311907.9:c.1169T>A	ENSP00000308541.5:p.Leu390Gln
ENST00000530231.5:c.1169T>A	ENSP00000433907.1:p.Leu390Gln
NM_000506.3:c.1169T>A	NP_000497.1:p.Leu390Gln
NM_000506.4:c.1169T>A , LRG_551t1:c.1169T>A	NP_000497.1:p.Leu390Gln
NM_001311257.1:c.1121T>A	NP_001298186.1:p.Leu374Gln
XR_428840.2:n.1213T>A
XR_428840.4:n.1204T>A
NM_000506.5:c.1169T>A MANE Select	NP_000497.1:p.Leu390Gln
NM_001311257.2:c.1121T>A	NP_001298186.1:p.Leu374Gln