Canonical Allele Identifier: CA1969070167

Gene: F2

Linked Data

• ClinVar Variation Id: 2855464
• ClinVar RCV Id: RCV003626107
• dbSNP Id: rs2064850627

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46723363G>T , CM000673.2:g.46723363G>T	GRCh38
NC_000011.9:g.46744913G>T , CM000673.1:g.46744913G>T	GRCh37
NC_000011.8:g.46701489G>T	NCBI36
NG_008953.1:g.9171G>T , LRG_551:g.9171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.423-19G>T MANE Select	ENSP00000308541.5:n.423-19G>T
ENST00000311907.9:c.423-19G>T	ENSP00000308541.5:n.423-19G>T
ENST00000442468.1:c.393-19G>T	ENSP00000387413.1:n.393-19G>T
ENST00000490274.1:n.184G>T
ENST00000530231.5:c.423-19G>T	ENSP00000433907.1:n.423-19G>T
NM_000506.3:c.423-19G>T	NP_000497.1:n.423-19G>T
NM_000506.4:c.423-19G>T , LRG_551t1:c.423-19G>T	NP_000497.1:n.423-19G>T
NM_001311257.1:c.375-19G>T	NP_001298186.1:n.375-19G>T
XR_428840.2:n.467-19G>T
XR_428840.4:n.458-19G>T
NM_000506.5:c.423-19G>T MANE Select	NP_000497.1:n.423-19G>T
NM_001311257.2:c.375-19G>T	NP_001298186.1:n.375-19G>T