Canonical Allele Identifier: CA380264849

Gene: F2

Linked Data

• dbSNP Id: rs1371089628
• gnomAD v2: 11-46747483-C-A
• MyVariant Identifiers: chr11:g.46747483C>A (hg19) ; chr11:g.46725933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725933C>A , CM000673.2:g.46725933C>A	GRCh38
NC_000011.9:g.46747483C>A , CM000673.1:g.46747483C>A	GRCh37
NC_000011.8:g.46704059C>A	NCBI36
NG_008953.1:g.11741C>A , LRG_551:g.11741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.634C>A MANE Select	ENSP00000308541.5:p.Gln212Lys
ENST00000311907.9:c.634C>A	ENSP00000308541.5:p.Gln212Lys
ENST00000442468.1:c.604C>A	ENSP00000387413.1:p.Gln202Lys
ENST00000490274.1:n.414C>A
ENST00000530231.5:c.634C>A	ENSP00000433907.1:p.Gln212Lys
NM_000506.3:c.634C>A	NP_000497.1:p.Gln212Lys
NM_000506.4:c.634C>A , LRG_551t1:c.634C>A	NP_000497.1:p.Gln212Lys
NM_001311257.1:c.586C>A	NP_001298186.1:p.Gln196Lys
XR_428840.2:n.678C>A
XR_428840.4:n.669C>A
NM_000506.5:c.634C>A MANE Select	NP_000497.1:p.Gln212Lys
NM_001311257.2:c.586C>A	NP_001298186.1:p.Gln196Lys