Canonical Allele Identifier: CA1581261136

Gene: FBN2

Linked Data

• dbSNP Id: rs1750230595

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317359_128317384del , CM000667.2:g.128317359_128317384del	GRCh38
NC_000005.9:g.127653051_127653076del , CM000667.1:g.127653051_127653076del	GRCh37
NC_000005.8:g.127680950_127680975del	NCBI36
NG_008750.1:g.225660_225685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+765_1501+790del
ENST00000703785.1:n.1582+765_1582+790del
ENST00000262464.9:c.4717+765_4717+790del MANE Select	ENSP00000262464.4:n.4717+765_4717+790del
ENST00000262464.8:c.4717+765_4717+790del	ENSP00000262464.4:n.4717+765_4717+790del
ENST00000508053.5:c.4717+765_4717+790del	ENSP00000424571.1:n.4717+765_4717+790del
ENST00000619499.4:c.4714+765_4714+790del	ENSP00000482132.1:n.4714+765_4714+790del
NM_001999.3:c.4717+765_4717+790del	NP_001990.2:n.4717+765_4717+790del
XM_017009228.2:c.4564+765_4564+790del	XP_016864717.1:n.4564+765_4564+790del
NM_001999.4:c.4717+765_4717+790del MANE Select	NP_001990.2:n.4717+765_4717+790del