Canonical Allele Identifier: CA599372386

Gene: F2

Linked Data

• dbSNP Id: rs1354143839
• gnomAD v2: 11-46747561-G-GC
• gnomAD v3: 11-46726011-G-GC
• gnomAD v4: 11-46726011-G-GC
• MyVariant Identifiers: chr11:g.46747561_46747562insC (hg19) ; chr11:g.46726011_46726012insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726013dup , CM000673.2:g.46726013dup	GRCh38
NC_000011.9:g.46747563dup , CM000673.1:g.46747563dup	GRCh37
NC_000011.8:g.46704139dup	NCBI36
NG_008953.1:g.11821dup , LRG_551:g.11821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.714dup MANE Select	ENSP00000308541.5:p.Ser239GlnfsTer?
ENST00000311907.9:c.714dup	ENSP00000308541.5:p.Ser239GlnfsTer?
ENST00000442468.1:c.684dup	ENSP00000387413.1:p.Ser229GlnfsTer?
ENST00000490274.1:n.494dup
ENST00000530231.5:c.714dup	ENSP00000433907.1:p.Ser239GlnfsTer?
NM_000506.3:c.714dup	NP_000497.1:p.Ser239GlnfsTer?
NM_000506.4:c.714dup , LRG_551t1:c.714dup	NP_000497.1:p.Ser239GlnfsTer?
NM_001311257.1:c.666dup	NP_001298186.1:p.Ser223GlnfsTer?
XR_428840.2:n.758dup
XR_428840.4:n.749dup
NM_000506.5:c.714dup MANE Select	NP_000497.1:p.Ser239GlnfsTer?
NM_001311257.2:c.666dup	NP_001298186.1:p.Ser223GlnfsTer?