Canonical Allele Identifier: CA5967320
Community Standard Title: NM_000506.5(F2):c.1542C>A (p.Asn514Lys)
Gene: F2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46729449C>A , CM000673.2:g.46729449C>A GRCh38
NC_000011.9:g.46750999C>A , CM000673.1:g.46750999C>A GRCh37
NC_000011.8:g.46707575C>A NCBI36
NG_008953.1:g.15257C>A , LRG_551:g.15257C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000506.5:c.1542C>A MANE Select NP_000497.1:p.Asn514Lys
ENST00000311907.10:c.1542C>A MANE Select ENSP00000308541.5:p.Asn514Lys
NM_000506.3:c.1542C>A NP_000497.1:p.Asn514Lys
NM_000506.4:c.1542C>A , LRG_551t1:c.1542C>A NP_000497.1:p.Asn514Lys
NM_001311257.1:c.1494C>A NP_001298186.1:p.Asn498Lys
NM_001311257.2:c.1494C>A NP_001298186.1:p.Asn498Lys
ENST00000311907.9:c.1542C>A ENSP00000308541.5:p.Asn514Lys
ENST00000530231.5:c.1425C>A ENSP00000433907.1:p.Asn475Lys
XR_428840.2:n.1516+612C>A
XR_428840.4:n.1507+612C>A