Canonical Allele Identifier: CA380264687

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46747426G>T (hg19) ; chr11:g.46725876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725876G>T , CM000673.2:g.46725876G>T	GRCh38
NC_000011.9:g.46747426G>T , CM000673.1:g.46747426G>T	GRCh37
NC_000011.8:g.46704002G>T	NCBI36
NG_008953.1:g.11684G>T , LRG_551:g.11684G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.577G>T MANE Select	ENSP00000308541.5:p.Val193Leu
ENST00000311907.9:c.577G>T	ENSP00000308541.5:p.Val193Leu
ENST00000442468.1:c.547G>T	ENSP00000387413.1:p.Val183Leu
ENST00000490274.1:n.357G>T
ENST00000530231.5:c.577G>T	ENSP00000433907.1:p.Val193Leu
NM_000506.3:c.577G>T	NP_000497.1:p.Val193Leu
NM_000506.4:c.577G>T , LRG_551t1:c.577G>T	NP_000497.1:p.Val193Leu
NM_001311257.1:c.529G>T	NP_001298186.1:p.Val177Leu
XR_428840.2:n.621G>T
XR_428840.4:n.612G>T
NM_000506.5:c.577G>T MANE Select	NP_000497.1:p.Val193Leu
NM_001311257.2:c.529G>T	NP_001298186.1:p.Val177Leu