Canonical Allele Identifier: CA1581258908

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312444_128312446delinsCAT , CM000667.2:g.128312444_128312446delinsCAT	GRCh38
NC_000005.9:g.127648136_127648138delinsCAT , CM000667.1:g.127648136_127648138delinsCAT	GRCh37
NC_000005.8:g.127676035_127676037delinsCAT	NCBI36
NG_008750.1:g.230598_230600delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1663+188_1663+190delinsATG
ENST00000703785.1:n.1583-493_1583-491delinsATG
ENST00000262464.9:c.4879+188_4879+190delinsATG MANE Select	ENSP00000262464.4:n.4879+188_4879+190delinsATG
ENST00000262464.8:c.4879+188_4879+190delinsATG	ENSP00000262464.4:n.4879+188_4879+190delinsATG
ENST00000508053.5:c.4879+188_4879+190delinsATG	ENSP00000424571.1:n.4879+188_4879+190delinsATG
ENST00000619499.4:c.4876+188_4876+190delinsATG	ENSP00000482132.1:n.4876+188_4876+190delinsATG
NM_001999.3:c.4879+188_4879+190delinsATG	NP_001990.2:n.4879+188_4879+190delinsATG
XM_017009228.2:c.4726+188_4726+190delinsATG	XP_016864717.1:n.4726+188_4726+190delinsATG
NM_001999.4:c.4879+188_4879+190delinsATG MANE Select	NP_001990.2:n.4879+188_4879+190delinsATG