Canonical Allele Identifier: CA2840911987

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393165dup , CM000667.2:g.128393165dup	GRCh38
NC_000005.9:g.127728858dup , CM000667.1:g.127728858dup	GRCh37
NC_000005.8:g.127756757dup	NCBI36
NG_008750.1:g.149882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1146dup
ENST00000262464.9:c.1439dup MANE Select	ENSP00000262464.4:p.Gln481ThrfsTer19
ENST00000262464.8:c.1439dup	ENSP00000262464.4:p.Gln481ThrfsTer19
ENST00000508053.5:c.1439dup	ENSP00000424571.1:p.Gln481ThrfsTer19
ENST00000508989.5:c.1340dup	ENSP00000425596.1:p.Gln448ThrfsTer19
ENST00000619499.4:c.1436dup	ENSP00000482132.1:p.Gln480ThrfsTer19
NM_001999.3:c.1439dup	NP_001990.2:p.Gln481ThrfsTer19
XM_017009228.2:c.1286dup	XP_016864717.1:p.Gln430ThrfsTer19
NM_001999.4:c.1439dup MANE Select	NP_001990.2:p.Gln481ThrfsTer19