Canonical Allele Identifier: CA1081365834

Gene: FBN2

Linked Data

• dbSNP Id: rs1750230220
• gnomAD v3: 5-128317339-CAAAT-C
• gnomAD v4: 5-128317339-CAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317340_128317343del , CM000667.2:g.128317340_128317343del	GRCh38
NC_000005.9:g.127653032_127653035del , CM000667.1:g.127653032_127653035del	GRCh37
NC_000005.8:g.127680931_127680934del	NCBI36
NG_008750.1:g.225701_225704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+806_1501+809del
ENST00000703785.1:n.1582+806_1582+809del
ENST00000262464.9:c.4717+806_4717+809del MANE Select	ENSP00000262464.4:n.4717+806_4717+809del
ENST00000262464.8:c.4717+806_4717+809del	ENSP00000262464.4:n.4717+806_4717+809del
ENST00000508053.5:c.4717+806_4717+809del	ENSP00000424571.1:n.4717+806_4717+809del
ENST00000619499.4:c.4714+806_4714+809del	ENSP00000482132.1:n.4714+806_4714+809del
NM_001999.3:c.4717+806_4717+809del	NP_001990.2:n.4717+806_4717+809del
XM_017009228.2:c.4564+806_4564+809del	XP_016864717.1:n.4564+806_4564+809del
NM_001999.4:c.4717+806_4717+809del MANE Select	NP_001990.2:n.4717+806_4717+809del