Canonical Allele Identifier: CA380269344
Gene: F2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46728033C>G , CM000673.2:g.46728033C>G GRCh38
NC_000011.9:g.46749583C>G , CM000673.1:g.46749583C>G GRCh37
NC_000011.8:g.46706159C>G NCBI36
NG_008953.1:g.13841C>G , LRG_551:g.13841C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311907.10:c.1168C>G MANE Select ENSP00000308541.5:p.Leu390Val
ENST00000311907.9:c.1168C>G ENSP00000308541.5:p.Leu390Val
ENST00000530231.5:c.1168C>G ENSP00000433907.1:p.Leu390Val
NM_000506.3:c.1168C>G NP_000497.1:p.Leu390Val
NM_000506.4:c.1168C>G , LRG_551t1:c.1168C>G NP_000497.1:p.Leu390Val
NM_001311257.1:c.1120C>G NP_001298186.1:p.Leu374Val
XR_428840.2:n.1212C>G
XR_428840.4:n.1203C>G
NM_000506.5:c.1168C>G MANE Select NP_000497.1:p.Leu390Val
NM_001311257.2:c.1120C>G NP_001298186.1:p.Leu374Val