Canonical Allele Identifier: CA1581282212

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357175_128357176delinsGC , CM000667.2:g.128357175_128357176delinsGC	GRCh38
NC_000005.9:g.127692867_127692868delinsGC , CM000667.1:g.127692867_127692868delinsGC	GRCh37
NC_000005.8:g.127720766_127720767delinsGC	NCBI36
NG_008750.1:g.185868_185869delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+100_2674+101delinsGC MANE Select	ENSP00000262464.4:n.2674+100_2674+101delinsGC
ENST00000262464.8:c.2674+100_2674+101delinsGC	ENSP00000262464.4:n.2674+100_2674+101delinsGC
ENST00000508053.5:c.2674+100_2674+101delinsGC	ENSP00000424571.1:n.2674+100_2674+101delinsGC
ENST00000508989.5:c.2575+100_2575+101delinsGC	ENSP00000425596.1:n.2575+100_2575+101delinsGC
ENST00000619499.4:c.2671+100_2671+101delinsGC	ENSP00000482132.1:n.2671+100_2671+101delinsGC
NM_001999.3:c.2674+100_2674+101delinsGC	NP_001990.2:n.2674+100_2674+101delinsGC
XM_017009228.2:c.2521+100_2521+101delinsGC	XP_016864717.1:n.2521+100_2521+101delinsGC
NM_001999.4:c.2674+100_2674+101delinsGC MANE Select	NP_001990.2:n.2674+100_2674+101delinsGC