Canonical Allele Identifier: CA474043548
Gene: F2 HGNC NCBI

Linked Data

dbSNP Id: rs2134531546
MyVariant Identifiers: chr11:g.46747479G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46725929G>A , CM000673.2:g.46725929G>A GRCh38
NC_000011.9:g.46747479G>A , CM000673.1:g.46747479G>A GRCh37
NC_000011.8:g.46704055G>A NCBI36
NG_008953.1:g.11737G>A , LRG_551:g.11737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.630G>A MANE Select ENSP00000308541.5:p.Leu210=
ENST00000311907.9:c.630G>A ENSP00000308541.5:p.Leu210=
ENST00000442468.1:c.600G>A ENSP00000387413.1:p.Leu200=
ENST00000490274.1:n.410G>A
ENST00000530231.5:c.630G>A ENSP00000433907.1:p.Leu210=
NM_000506.3:c.630G>A NP_000497.1:p.Leu210=
NM_000506.4:c.630G>A , LRG_551t1:c.630G>A NP_000497.1:p.Leu210=
NM_001311257.1:c.582G>A NP_001298186.1:p.Leu194=
XR_428840.2:n.674G>A
XR_428840.4:n.665G>A
NM_000506.5:c.630G>A MANE Select NP_000497.1:p.Leu210=
NM_001311257.2:c.582G>A NP_001298186.1:p.Leu194=