Canonical Allele Identifier: CA473871924

Gene: F2

Linked Data

• ClinVar Variation Id: 2888085
• ClinVar RCV Id: RCV003627134
• MyVariant Identifiers: chr11:g.46749642G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728092G>T , CM000673.2:g.46728092G>T	GRCh38
NC_000011.9:g.46749642G>T , CM000673.1:g.46749642G>T	GRCh37
NC_000011.8:g.46706218G>T	NCBI36
NG_008953.1:g.13900G>T , LRG_551:g.13900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1227G>T MANE Select	ENSP00000308541.5:p.Leu409=
ENST00000311907.9:c.1227G>T	ENSP00000308541.5:p.Leu409=
ENST00000530231.5:c.1227G>T	ENSP00000433907.1:p.Leu409=
NM_000506.3:c.1227G>T	NP_000497.1:p.Leu409=
NM_000506.4:c.1227G>T , LRG_551t1:c.1227G>T	NP_000497.1:p.Leu409=
NM_001311257.1:c.1179G>T	NP_001298186.1:p.Leu393=
XR_428840.2:n.1271G>T
XR_428840.4:n.1262G>T
NM_000506.5:c.1227G>T MANE Select	NP_000497.1:p.Leu409=
NM_001311257.2:c.1179G>T	NP_001298186.1:p.Leu393=