Canonical Allele Identifier: CA2675118134

Gene: FBN2

Linked Data

• gnomAD v4: 5-128344388-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344389dup , CM000667.2:g.128344389dup	GRCh38
NC_000005.9:g.127680081dup , CM000667.1:g.127680081dup	GRCh37
NC_000005.8:g.127707980dup	NCBI36
NG_008750.1:g.198655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3339dup MANE Select	ENSP00000262464.4:p.Thr1114HisfsTer11
ENST00000262464.8:c.3339dup	ENSP00000262464.4:p.Thr1114HisfsTer11
ENST00000508053.5:c.3339dup	ENSP00000424571.1:p.Thr1114HisfsTer11
ENST00000508989.5:c.3240dup	ENSP00000425596.1:p.Thr1081HisfsTer11
ENST00000619499.4:c.3336dup	ENSP00000482132.1:p.Thr1113HisfsTer11
NM_001999.3:c.3339dup	NP_001990.2:p.Thr1114HisfsTer11
XM_017009228.2:c.3186dup	XP_016864717.1:p.Thr1063HisfsTer11
NM_001999.4:c.3339dup MANE Select	NP_001990.2:p.Thr1114HisfsTer11