Canonical Allele Identifier: CA380265344

Gene: F2

Linked Data

• dbSNP Id: rs2064870135
• gnomAD v4: 11-46726053-A-C
• MyVariant Identifiers: chr11:g.46747603A>C (hg19) ; chr11:g.46726053A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726053A>C , CM000673.2:g.46726053A>C	GRCh38
NC_000011.9:g.46747603A>C , CM000673.1:g.46747603A>C	GRCh37
NC_000011.8:g.46704179A>C	NCBI36
NG_008953.1:g.11861A>C , LRG_551:g.11861A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.754A>C MANE Select	ENSP00000308541.5:p.Asn252His
ENST00000311907.9:c.754A>C	ENSP00000308541.5:p.Asn252His
ENST00000442468.1:c.724A>C	ENSP00000387413.1:p.Asn242His
ENST00000490274.1:n.534A>C
ENST00000530231.5:c.754A>C	ENSP00000433907.1:p.Asn252His
NM_000506.3:c.754A>C	NP_000497.1:p.Asn252His
NM_000506.4:c.754A>C , LRG_551t1:c.754A>C	NP_000497.1:p.Asn252His
NM_001311257.1:c.706A>C	NP_001298186.1:p.Asn236His
XR_428840.2:n.798A>C
XR_428840.4:n.789A>C
NM_000506.5:c.754A>C MANE Select	NP_000497.1:p.Asn252His
NM_001311257.2:c.706A>C	NP_001298186.1:p.Asn236His