Canonical Allele Identifier: CA380264838

Gene: F2

Linked Data

• gnomAD v4: 11-46725930-G-A
• COSMIC: COSM5838618
• MyVariant Identifiers: chr11:g.46747480G>A (hg19) ; chr11:g.46725930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725930G>A , CM000673.2:g.46725930G>A	GRCh38
NC_000011.9:g.46747480G>A , CM000673.1:g.46747480G>A	GRCh37
NC_000011.8:g.46704056G>A	NCBI36
NG_008953.1:g.11738G>A , LRG_551:g.11738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.631G>A MANE Select	ENSP00000308541.5:p.Glu211Lys
ENST00000311907.9:c.631G>A	ENSP00000308541.5:p.Glu211Lys
ENST00000442468.1:c.601G>A	ENSP00000387413.1:p.Glu201Lys
ENST00000490274.1:n.411G>A
ENST00000530231.5:c.631G>A	ENSP00000433907.1:p.Glu211Lys
NM_000506.3:c.631G>A	NP_000497.1:p.Glu211Lys
NM_000506.4:c.631G>A , LRG_551t1:c.631G>A	NP_000497.1:p.Glu211Lys
NM_001311257.1:c.583G>A	NP_001298186.1:p.Glu195Lys
XR_428840.2:n.675G>A
XR_428840.4:n.666G>A
NM_000506.5:c.631G>A MANE Select	NP_000497.1:p.Glu211Lys
NM_001311257.2:c.583G>A	NP_001298186.1:p.Glu195Lys