Canonical Allele Identifier: CA2540179315

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357201_128357202insGATTCTAGAAATCTTCCTTTTATATAAGTAGATATATTATGCTATAACTTATAATCATT , CM000667.2:g.128357201_128357202insGATTCTAGAAATCTTCCTTTTATATAAGTAGATATATTATGCTATAACTTATAATCATT	GRCh38
NC_000005.9:g.127692893_127692894insGATTCTAGAAATCTTCCTTTTATATAAGTAGATATATTATGCTATAACTTATAATCATT , CM000667.1:g.127692893_127692894insGATTCTAGAAATCTTCCTTTTATATAAGTAGATATATTATGCTATAACTTATAATCATT	GRCh37
NC_000005.8:g.127720792_127720793insGATTCTAGAAATCTTCCTTTTATATAAGTAGATATATTATGCTATAACTTATAATCATT	NCBI36
NG_008750.1:g.185842_185843insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC MANE Select	ENSP00000262464.4:n.2674+74_2674+75insAATGATTATAAGTTATAGCATAA...
ENST00000262464.8:c.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC	ENSP00000262464.4:n.2674+74_2674+75insAATGATTATAAGTTATAGCATAA...
ENST00000508053.5:c.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC	ENSP00000424571.1:n.2674+74_2674+75insAATGATTATAAGTTATAGCATAA...
ENST00000508989.5:c.2575+74_2575+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC	ENSP00000425596.1:n.2575+74_2575+75insAATGATTATAAGTTATAGCATAA...
ENST00000619499.4:c.2671+74_2671+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC	ENSP00000482132.1:n.2671+74_2671+75insAATGATTATAAGTTATAGCATAA...
NM_001999.3:c.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC	NP_001990.2:n.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATC...
XM_017009228.2:c.2521+74_2521+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC	XP_016864717.1:n.2521+74_2521+75insAATGATTATAAGTTATAGCATAATAT...
NM_001999.4:c.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATCTACTTATATAAAAGGAAGATTTCTAGAATC MANE Select	NP_001990.2:n.2674+74_2674+75insAATGATTATAAGTTATAGCATAATATATC...