Canonical Allele Identifier: CA1969068316
Community Standard Title: NM_000506.5(F2):c.316+857T=
Gene: F2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46721697T= , CM000673.2:g.46721697T= GRCh38
NC_000011.9:g.46743247T= , CM000673.1:g.46743247T= GRCh37
NC_000011.8:g.46699823T= NCBI36
NG_008953.1:g.7505T= , LRG_551:g.7505T=

Transcript Alleles

HGVS Amino-acid Change
NM_000506.5:c.316+857T= MANE Select NP_000497.1:n.316+857T=
ENST00000311907.10:c.316+857T= MANE Select ENSP00000308541.5:n.316+857T=
NM_000506.3:c.316+857T= NP_000497.1:n.316+857T=
NM_000506.4:c.316+857T= , LRG_551t1:c.316+857T= NP_000497.1:n.316+857T=
NM_001311257.1:c.268+857T= NP_001298186.1:n.268+857T=
NM_001311257.2:c.268+857T= NP_001298186.1:n.268+857T=
ENST00000311907.9:c.316+857T= ENSP00000308541.5:n.316+857T=
ENST00000442468.1:c.286+857T= ENSP00000387413.1:n.286+857T=
ENST00000530231.5:c.316+857T= ENSP00000433907.1:n.316+857T=
XR_428840.2:n.360+857T=
XR_428840.4:n.351+857T=