Canonical Allele Identifier: CA1581253240

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300398_128300399delinsCT , CM000667.2:g.128300398_128300399delinsCT	GRCh38
NC_000005.9:g.127636090_127636091delinsCT , CM000667.1:g.127636090_127636091delinsCT	GRCh37
NC_000005.8:g.127663989_127663990delinsCT	NCBI36
NG_008750.1:g.242645_242646delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+418_2950+419delinsAG
ENST00000703785.1:n.2869+418_2869+419delinsAG
ENST00000262464.9:c.6166+418_6166+419delinsAG MANE Select	ENSP00000262464.4:n.6166+418_6166+419delinsAG
ENST00000262464.8:c.6166+418_6166+419delinsAG	ENSP00000262464.4:n.6166+418_6166+419delinsAG
ENST00000508053.5:c.6166+418_6166+419delinsAG	ENSP00000424571.1:n.6166+418_6166+419delinsAG
ENST00000619499.4:c.6163+418_6163+419delinsAG	ENSP00000482132.1:n.6163+418_6163+419delinsAG
NM_001999.3:c.6166+418_6166+419delinsAG	NP_001990.2:n.6166+418_6166+419delinsAG
XM_017009228.2:c.6013+418_6013+419delinsAG	XP_016864717.1:n.6013+418_6013+419delinsAG
NM_001999.4:c.6166+418_6166+419delinsAG MANE Select	NP_001990.2:n.6166+418_6166+419delinsAG