Canonical Allele Identifier: CA2578396476

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357219_128357220del , CM000667.2:g.128357219_128357220del	GRCh38
NC_000005.9:g.127692911_127692912del , CM000667.1:g.127692911_127692912del	GRCh37
NC_000005.8:g.127720810_127720811del	NCBI36
NG_008750.1:g.185826_185827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+58_2674+59del MANE Select	ENSP00000262464.4:n.2674+58_2674+59del
ENST00000262464.8:c.2674+58_2674+59del	ENSP00000262464.4:n.2674+58_2674+59del
ENST00000508053.5:c.2674+58_2674+59del	ENSP00000424571.1:n.2674+58_2674+59del
ENST00000508989.5:c.2575+58_2575+59del	ENSP00000425596.1:n.2575+58_2575+59del
ENST00000619499.4:c.2671+58_2671+59del	ENSP00000482132.1:n.2671+58_2671+59del
NM_001999.3:c.2674+58_2674+59del	NP_001990.2:n.2674+58_2674+59del
XM_017009228.2:c.2521+58_2521+59del	XP_016864717.1:n.2521+58_2521+59del
NM_001999.4:c.2674+58_2674+59del MANE Select	NP_001990.2:n.2674+58_2674+59del