Canonical Allele Identifier: CA474043806
Gene: F2 HGNC NCBI

Linked Data

COSMIC: COSM127920
MyVariant Identifiers: chr11:g.46748262C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726712C>T , CM000673.2:g.46726712C>T GRCh38
NC_000011.9:g.46748262C>T , CM000673.1:g.46748262C>T GRCh37
NC_000011.8:g.46704838C>T NCBI36
NG_008953.1:g.12520C>T , LRG_551:g.12520C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000311907.10:c.1005C>T MANE Select ENSP00000308541.5:p.Asp335=
ENST00000311907.9:c.1005C>T ENSP00000308541.5:p.Asp335=
ENST00000530231.5:c.1005C>T ENSP00000433907.1:p.Asp335=
NM_000506.3:c.1005C>T NP_000497.1:p.Asp335=
NM_000506.4:c.1005C>T , LRG_551t1:c.1005C>T NP_000497.1:p.Asp335=
NM_001311257.1:c.957C>T NP_001298186.1:p.Asp319=
XR_428840.2:n.1049C>T
XR_428840.4:n.1040C>T
NM_000506.5:c.1005C>T MANE Select NP_000497.1:p.Asp335=
NM_001311257.2:c.957C>T NP_001298186.1:p.Asp319=