Canonical Allele Identifier: CA1581282181

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357117_128357121delinsATGTT , CM000667.2:g.128357117_128357121delinsATGTT	GRCh38
NC_000005.9:g.127692809_127692813delinsATGTT , CM000667.1:g.127692809_127692813delinsATGTT	GRCh37
NC_000005.8:g.127720708_127720712delinsATGTT	NCBI36
NG_008750.1:g.185923_185927delinsAACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+155_2674+159delinsAACAT MANE Select	ENSP00000262464.4:n.2674+155_2674+159delinsAACAT
ENST00000262464.8:c.2674+155_2674+159delinsAACAT	ENSP00000262464.4:n.2674+155_2674+159delinsAACAT
ENST00000508053.5:c.2674+155_2674+159delinsAACAT	ENSP00000424571.1:n.2674+155_2674+159delinsAACAT
ENST00000508989.5:c.2575+155_2575+159delinsAACAT	ENSP00000425596.1:n.2575+155_2575+159delinsAACAT
ENST00000619499.4:c.2671+155_2671+159delinsAACAT	ENSP00000482132.1:n.2671+155_2671+159delinsAACAT
NM_001999.3:c.2674+155_2674+159delinsAACAT	NP_001990.2:n.2674+155_2674+159delinsAACAT
XM_017009228.2:c.2521+155_2521+159delinsAACAT	XP_016864717.1:n.2521+155_2521+159delinsAACAT
NM_001999.4:c.2674+155_2674+159delinsAACAT MANE Select	NP_001990.2:n.2674+155_2674+159delinsAACAT