Canonical Allele Identifier: CA1581255141

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304473_128304475delinsCAA , CM000667.2:g.128304473_128304475delinsCAA	GRCh38
NC_000005.9:g.127640165_127640167delinsCAA , CM000667.1:g.127640165_127640167delinsCAA	GRCh37
NC_000005.8:g.127668064_127668066delinsCAA	NCBI36
NG_008750.1:g.238569_238571delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+482_2584+484delinsTTG
ENST00000703785.1:n.2503+482_2503+484delinsTTG
ENST00000262464.9:c.5800+482_5800+484delinsTTG MANE Select	ENSP00000262464.4:n.5800+482_5800+484delinsTTG
ENST00000262464.8:c.5800+482_5800+484delinsTTG	ENSP00000262464.4:n.5800+482_5800+484delinsTTG
ENST00000508053.5:c.5800+482_5800+484delinsTTG	ENSP00000424571.1:n.5800+482_5800+484delinsTTG
ENST00000619499.4:c.5797+482_5797+484delinsTTG	ENSP00000482132.1:n.5797+482_5797+484delinsTTG
NM_001999.3:c.5800+482_5800+484delinsTTG	NP_001990.2:n.5800+482_5800+484delinsTTG
XM_017009228.2:c.5647+482_5647+484delinsTTG	XP_016864717.1:n.5647+482_5647+484delinsTTG
NM_001999.4:c.5800+482_5800+484delinsTTG MANE Select	NP_001990.2:n.5800+482_5800+484delinsTTG