Canonical Allele Identifier: CA2768335059

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300724del , CM000667.2:g.128300724del	GRCh38
NC_000005.9:g.127636416del , CM000667.1:g.127636416del	GRCh37
NC_000005.8:g.127664315del	NCBI36
NG_008750.1:g.242321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+94del
ENST00000703785.1:n.2869+94del
ENST00000262464.9:c.6166+94del MANE Select	ENSP00000262464.4:n.6166+94del
ENST00000262464.8:c.6166+94del	ENSP00000262464.4:n.6166+94del
ENST00000508053.5:c.6166+94del	ENSP00000424571.1:n.6166+94del
ENST00000619499.4:c.6163+94del	ENSP00000482132.1:n.6163+94del
NM_001999.3:c.6166+94del	NP_001990.2:n.6166+94del
XM_017009228.2:c.6013+94del	XP_016864717.1:n.6013+94del
NM_001999.4:c.6166+94del MANE Select	NP_001990.2:n.6166+94del