Canonical Allele Identifier: CA1581282065

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128356840_128356841delinsTA , CM000667.2:g.128356840_128356841delinsTA	GRCh38
NC_000005.9:g.127692532_127692533delinsTA , CM000667.1:g.127692532_127692533delinsTA	GRCh37
NC_000005.8:g.127720431_127720432delinsTA	NCBI36
NG_008750.1:g.186203_186204delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+435_2674+436delinsTA MANE Select	ENSP00000262464.4:n.2674+435_2674+436delinsTA
ENST00000262464.8:c.2674+435_2674+436delinsTA	ENSP00000262464.4:n.2674+435_2674+436delinsTA
ENST00000508053.5:c.2674+435_2674+436delinsTA	ENSP00000424571.1:n.2674+435_2674+436delinsTA
ENST00000508989.5:c.2575+435_2575+436delinsTA	ENSP00000425596.1:n.2575+435_2575+436delinsTA
ENST00000619499.4:c.2671+435_2671+436delinsTA	ENSP00000482132.1:n.2671+435_2671+436delinsTA
NM_001999.3:c.2674+435_2674+436delinsTA	NP_001990.2:n.2674+435_2674+436delinsTA
XM_017009228.2:c.2521+435_2521+436delinsTA	XP_016864717.1:n.2521+435_2521+436delinsTA
NM_001999.4:c.2674+435_2674+436delinsTA MANE Select	NP_001990.2:n.2674+435_2674+436delinsTA