Canonical Allele Identifier: CA2534470252

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304494_128304495insGTAG , CM000667.2:g.128304494_128304495insGTAG	GRCh38
NC_000005.9:g.127640186_127640187insGTAG , CM000667.1:g.127640186_127640187insGTAG	GRCh37
NC_000005.8:g.127668085_127668086insGTAG	NCBI36
NG_008750.1:g.238549_238550insCTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+462_2584+463insCTAC
ENST00000703785.1:n.2503+462_2503+463insCTAC
ENST00000262464.9:c.5800+462_5800+463insCTAC MANE Select	ENSP00000262464.4:n.5800+462_5800+463insCTAC
ENST00000262464.8:c.5800+462_5800+463insCTAC	ENSP00000262464.4:n.5800+462_5800+463insCTAC
ENST00000508053.5:c.5800+462_5800+463insCTAC	ENSP00000424571.1:n.5800+462_5800+463insCTAC
ENST00000619499.4:c.5797+462_5797+463insCTAC	ENSP00000482132.1:n.5797+462_5797+463insCTAC
NM_001999.3:c.5800+462_5800+463insCTAC	NP_001990.2:n.5800+462_5800+463insCTAC
XM_017009228.2:c.5647+462_5647+463insCTAC	XP_016864717.1:n.5647+462_5647+463insCTAC
NM_001999.4:c.5800+462_5800+463insCTAC MANE Select	NP_001990.2:n.5800+462_5800+463insCTAC