Canonical Allele Identifier: CA221652038

Gene: F2

Linked Data

• ClinVar Variation Id: 2886358
• ClinVar RCV Id: RCV003627092
• dbSNP Id: rs1047233708
• gnomAD v2: 11-46747557-C-T
• gnomAD v3: 11-46726007-C-T
• gnomAD v4: 11-46726007-C-T
• MyVariant Identifiers: chr11:g.46747557C>T (hg19) ; chr11:g.46726007C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726007C>T , CM000673.2:g.46726007C>T	GRCh38
NC_000011.9:g.46747557C>T , CM000673.1:g.46747557C>T	GRCh37
NC_000011.8:g.46704133C>T	NCBI36
NG_008953.1:g.11815C>T , LRG_551:g.11815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.708C>T MANE Select	ENSP00000308541.5:p.Ala236=
ENST00000311907.9:c.708C>T	ENSP00000308541.5:p.Ala236=
ENST00000442468.1:c.678C>T	ENSP00000387413.1:p.Ala226=
ENST00000490274.1:n.488C>T
ENST00000530231.5:c.708C>T	ENSP00000433907.1:p.Ala236=
NM_000506.3:c.708C>T	NP_000497.1:p.Ala236=
NM_000506.4:c.708C>T , LRG_551t1:c.708C>T	NP_000497.1:p.Ala236=
NM_001311257.1:c.660C>T	NP_001298186.1:p.Ala220=
XR_428840.2:n.752C>T
XR_428840.4:n.743C>T
NM_000506.5:c.708C>T MANE Select	NP_000497.1:p.Ala236=
NM_001311257.2:c.660C>T	NP_001298186.1:p.Ala220=