Canonical Allele Identifier: CA1581282096

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128356936_128356937delinsTA , CM000667.2:g.128356936_128356937delinsTA	GRCh38
NC_000005.9:g.127692628_127692629delinsTA , CM000667.1:g.127692628_127692629delinsTA	GRCh37
NC_000005.8:g.127720527_127720528delinsTA	NCBI36
NG_008750.1:g.186107_186108delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+339_2674+340delinsTA MANE Select	ENSP00000262464.4:n.2674+339_2674+340delinsTA
ENST00000262464.8:c.2674+339_2674+340delinsTA	ENSP00000262464.4:n.2674+339_2674+340delinsTA
ENST00000508053.5:c.2674+339_2674+340delinsTA	ENSP00000424571.1:n.2674+339_2674+340delinsTA
ENST00000508989.5:c.2575+339_2575+340delinsTA	ENSP00000425596.1:n.2575+339_2575+340delinsTA
ENST00000619499.4:c.2671+339_2671+340delinsTA	ENSP00000482132.1:n.2671+339_2671+340delinsTA
NM_001999.3:c.2674+339_2674+340delinsTA	NP_001990.2:n.2674+339_2674+340delinsTA
XM_017009228.2:c.2521+339_2521+340delinsTA	XP_016864717.1:n.2521+339_2521+340delinsTA
NM_001999.4:c.2674+339_2674+340delinsTA MANE Select	NP_001990.2:n.2674+339_2674+340delinsTA