Canonical Allele Identifier: CA1581255167

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304520_128304528delinsGTATGTGCA , CM000667.2:g.128304520_128304528delinsGTATGTGCA	GRCh38
NC_000005.9:g.127640212_127640220delinsGTATGTGCA , CM000667.1:g.127640212_127640220delinsGTATGTGCA	GRCh37
NC_000005.8:g.127668111_127668119delinsGTATGTGCA	NCBI36
NG_008750.1:g.238516_238524delinsTGCACATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+429_2584+437delinsTGCACATAC
ENST00000703785.1:n.2503+429_2503+437delinsTGCACATAC
ENST00000262464.9:c.5800+429_5800+437delinsTGCACATAC MANE Select	ENSP00000262464.4:n.5800+429_5800+437delinsTGCACATAC
ENST00000262464.8:c.5800+429_5800+437delinsTGCACATAC	ENSP00000262464.4:n.5800+429_5800+437delinsTGCACATAC
ENST00000508053.5:c.5800+429_5800+437delinsTGCACATAC	ENSP00000424571.1:n.5800+429_5800+437delinsTGCACATAC
ENST00000619499.4:c.5797+429_5797+437delinsTGCACATAC	ENSP00000482132.1:n.5797+429_5797+437delinsTGCACATAC
NM_001999.3:c.5800+429_5800+437delinsTGCACATAC	NP_001990.2:n.5800+429_5800+437delinsTGCACATAC
XM_017009228.2:c.5647+429_5647+437delinsTGCACATAC	XP_016864717.1:n.5647+429_5647+437delinsTGCACATAC
NM_001999.4:c.5800+429_5800+437delinsTGCACATAC MANE Select	NP_001990.2:n.5800+429_5800+437delinsTGCACATAC