Canonical Allele Identifier: CA1581269782

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335905_128335906delinsGC , CM000667.2:g.128335905_128335906delinsGC	GRCh38
NC_000005.9:g.127671597_127671598delinsGC , CM000667.1:g.127671597_127671598delinsGC	GRCh37
NC_000005.8:g.127699496_127699497delinsGC	NCBI36
NG_008750.1:g.207138_207139delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.508+82_508+83delinsGC
ENST00000703785.1:n.589+82_589+83delinsGC
ENST00000262464.9:c.3724+82_3724+83delinsGC MANE Select	ENSP00000262464.4:n.3724+82_3724+83delinsGC
ENST00000262464.8:c.3724+82_3724+83delinsGC	ENSP00000262464.4:n.3724+82_3724+83delinsGC
ENST00000507835.5:c.274+82_274+83delinsGC	ENSP00000426839.1:n.274+82_274+83delinsGC
ENST00000508053.5:c.3724+82_3724+83delinsGC	ENSP00000424571.1:n.3724+82_3724+83delinsGC
ENST00000508989.5:c.3625+82_3625+83delinsGC	ENSP00000425596.1:n.3625+82_3625+83delinsGC
ENST00000619499.4:c.3721+82_3721+83delinsGC	ENSP00000482132.1:n.3721+82_3721+83delinsGC
NM_001999.3:c.3724+82_3724+83delinsGC	NP_001990.2:n.3724+82_3724+83delinsGC
XM_017009228.2:c.3571+82_3571+83delinsGC	XP_016864717.1:n.3571+82_3571+83delinsGC
NM_001999.4:c.3724+82_3724+83delinsGC MANE Select	NP_001990.2:n.3724+82_3724+83delinsGC