Canonical Allele Identifier: CA803637306

Gene: FBN2

Linked Data

• dbSNP Id: rs1229681770
• gnomAD v3: 5-128335705-ATCTT-A
• gnomAD v4: 5-128335705-ATCTT-A
• MyVariant Identifiers: chr5:g.127671398_127671401del (hg19) ; chr5:g.128335706_128335709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335710_128335713del , CM000667.2:g.128335710_128335713del	GRCh38
NC_000005.9:g.127671402_127671405del , CM000667.1:g.127671402_127671405del	GRCh37
NC_000005.8:g.127699301_127699304del	NCBI36
NG_008750.1:g.207335_207338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-132_509-129del
ENST00000703785.1:n.590-132_590-129del
ENST00000262464.9:c.3725-132_3725-129del MANE Select	ENSP00000262464.4:n.3725-132_3725-129del
ENST00000262464.8:c.3725-132_3725-129del	ENSP00000262464.4:n.3725-132_3725-129del
ENST00000507835.5:c.275-132_275-129del	ENSP00000426839.1:n.275-132_275-129del
ENST00000508053.5:c.3725-132_3725-129del	ENSP00000424571.1:n.3725-132_3725-129del
ENST00000508989.5:c.3626-132_3626-129del	ENSP00000425596.1:n.3626-132_3626-129del
ENST00000619499.4:c.3722-132_3722-129del	ENSP00000482132.1:n.3722-132_3722-129del
NM_001999.3:c.3725-132_3725-129del	NP_001990.2:n.3725-132_3725-129del
XM_017009228.2:c.3572-132_3572-129del	XP_016864717.1:n.3572-132_3572-129del
NM_001999.4:c.3725-132_3725-129del MANE Select	NP_001990.2:n.3725-132_3725-129del