Canonical Allele Identifier: CA599045300

Gene: F2

Linked Data

• dbSNP Id: rs2070852
• gnomAD v2: 11-46744925-G-A
• gnomAD v3: 11-46723375-G-A
• gnomAD v4: 11-46723375-G-A
• MyVariant Identifiers: chr11:g.46744925G>A (hg19) ; chr11:g.46723375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46723375G>A , CM000673.2:g.46723375G>A	GRCh38
NC_000011.9:g.46744925G>A , CM000673.1:g.46744925G>A	GRCh37
NC_000011.8:g.46701501G>A	NCBI36
NG_008953.1:g.9183G>A , LRG_551:g.9183G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.423-7G>A MANE Select	ENSP00000308541.5:n.423-7G>A
ENST00000311907.9:c.423-7G>A	ENSP00000308541.5:n.423-7G>A
ENST00000442468.1:c.393-7G>A	ENSP00000387413.1:n.393-7G>A
ENST00000490274.1:n.196G>A
ENST00000530231.5:c.423-7G>A	ENSP00000433907.1:n.423-7G>A
NM_000506.3:c.423-7G>A	NP_000497.1:n.423-7G>A
NM_000506.4:c.423-7G>A , LRG_551t1:c.423-7G>A	NP_000497.1:n.423-7G>A
NM_001311257.1:c.375-7G>A	NP_001298186.1:n.375-7G>A
XR_428840.2:n.467-7G>A
XR_428840.4:n.458-7G>A
NM_000506.5:c.423-7G>A MANE Select	NP_000497.1:n.423-7G>A
NM_001311257.2:c.375-7G>A	NP_001298186.1:n.375-7G>A