Canonical Allele Identifier: CA1969069933
Community Standard Title: NM_000506.5(F2):c.358G= (p.Val120=)
Gene: F2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46723221G= , CM000673.2:g.46723221G= GRCh38
NC_000011.9:g.46744771G= , CM000673.1:g.46744771G= GRCh37
NC_000011.8:g.46701347G= NCBI36
NG_008953.1:g.9029G= , LRG_551:g.9029G=

Transcript Alleles

HGVS Amino-acid Change
NM_000506.5:c.358G= MANE Select NP_000497.1:p.Val120=
ENST00000311907.10:c.358G= MANE Select ENSP00000308541.5:p.Val120=
NM_000506.3:c.358G= NP_000497.1:p.Val120=
NM_000506.4:c.358G= , LRG_551t1:c.358G= NP_000497.1:p.Val120=
NM_001311257.1:c.310G= NP_001298186.1:p.Val104=
NM_001311257.2:c.310G= NP_001298186.1:p.Val104=
ENST00000311907.9:c.358G= ENSP00000308541.5:p.Val120=
ENST00000442468.1:c.328G= ENSP00000387413.1:p.Val110=
ENST00000490274.1:n.42G=
ENST00000530231.5:c.358G= ENSP00000433907.1:p.Val120=
XR_428840.2:n.402G=
XR_428840.4:n.393G=