Canonical Allele Identifier: CA380265290

Gene: F2

Linked Data

• MyVariant Identifiers: chr11:g.46747593C>G (hg19) ; chr11:g.46726043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726043C>G , CM000673.2:g.46726043C>G	GRCh38
NC_000011.9:g.46747593C>G , CM000673.1:g.46747593C>G	GRCh37
NC_000011.8:g.46704169C>G	NCBI36
NG_008953.1:g.11851C>G , LRG_551:g.11851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.744C>G MANE Select	ENSP00000308541.5:p.His248Gln
ENST00000311907.9:c.744C>G	ENSP00000308541.5:p.His248Gln
ENST00000442468.1:c.714C>G	ENSP00000387413.1:p.His238Gln
ENST00000490274.1:n.524C>G
ENST00000530231.5:c.744C>G	ENSP00000433907.1:p.His248Gln
NM_000506.3:c.744C>G	NP_000497.1:p.His248Gln
NM_000506.4:c.744C>G , LRG_551t1:c.744C>G	NP_000497.1:p.His248Gln
NM_001311257.1:c.696C>G	NP_001298186.1:p.His232Gln
XR_428840.2:n.788C>G
XR_428840.4:n.779C>G
NM_000506.5:c.744C>G MANE Select	NP_000497.1:p.His248Gln
NM_001311257.2:c.696C>G	NP_001298186.1:p.His232Gln