Canonical Allele Identifier: CA380267454
Community Standard Title: NM_000506.5(F2):c.1027G>T (p.Glu343Ter)
Gene: F2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46726734G>T , CM000673.2:g.46726734G>T GRCh38
NC_000011.9:g.46748284G>T , CM000673.1:g.46748284G>T GRCh37
NC_000011.8:g.46704860G>T NCBI36
NG_008953.1:g.12542G>T , LRG_551:g.12542G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000506.5:c.1027G>T MANE Select NP_000497.1:p.Glu343Ter
ENST00000311907.10:c.1027G>T MANE Select ENSP00000308541.5:p.Glu343Ter
NM_000506.3:c.1027G>T NP_000497.1:p.Glu343Ter
NM_000506.4:c.1027G>T , LRG_551t1:c.1027G>T NP_000497.1:p.Glu343Ter
NM_001311257.1:c.979G>T NP_001298186.1:p.Glu327Ter
NM_001311257.2:c.979G>T NP_001298186.1:p.Glu327Ter
ENST00000311907.9:c.1027G>T ENSP00000308541.5:p.Glu343Ter
ENST00000530231.5:c.1027G>T ENSP00000433907.1:p.Glu343Ter
XR_428840.2:n.1071G>T
XR_428840.4:n.1062G>T