Canonical Allele Identifier: CA803625705

Gene: FBN2

Linked Data

• dbSNP Id: rs1403915974
• gnomAD v3: 5-128317230-CT-C
• gnomAD v4: 5-128317230-CT-C
• MyVariant Identifiers: chr5:g.127652923del (hg19) ; chr5:g.128317231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317234del , CM000667.2:g.128317234del	GRCh38
NC_000005.9:g.127652926del , CM000667.1:g.127652926del	GRCh37
NC_000005.8:g.127680825del	NCBI36
NG_008750.1:g.225813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+918del
ENST00000703785.1:n.1582+918del
ENST00000262464.9:c.4717+918del MANE Select	ENSP00000262464.4:n.4717+918del
ENST00000262464.8:c.4717+918del	ENSP00000262464.4:n.4717+918del
ENST00000508053.5:c.4717+918del	ENSP00000424571.1:n.4717+918del
ENST00000619499.4:c.4714+918del	ENSP00000482132.1:n.4714+918del
NM_001999.3:c.4717+918del	NP_001990.2:n.4717+918del
XM_017009228.2:c.4564+918del	XP_016864717.1:n.4564+918del
NM_001999.4:c.4717+918del MANE Select	NP_001990.2:n.4717+918del