Canonical Allele Identifier: CA2843744814
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128298909_128303722del , CM000667.2:g.128298909_128303722del GRCh38
NC_000005.9:g.127634601_127639414del , CM000667.1:g.127634601_127639414del GRCh37
NC_000005.8:g.127662500_127667313del NCBI36
NG_008750.1:g.239322_244135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2585-633_2950+1908del
ENST00000703785.1:n.2504-633_2869+1908del
ENST00000262464.9:c.5801-633_6166+1908del
ENST00000262464.8:c.5801-633_6166+1908del
ENST00000508053.5:c.5801-633_6166+1908del
ENST00000619499.4:c.5798-633_6163+1908del
NM_001999.3:c.5801-633_6166+1908del
XM_017009228.2:c.5648-633_6013+1908del
NM_001999.4:c.5801-633_6166+1908del