Canonical Allele Identifier: CA803637297

Gene: FBN2

Linked Data

• dbSNP Id: rs1311535845
• gnomAD v3: 5-128335703-TTATC-T
• gnomAD v4: 5-128335703-TTATC-T
• MyVariant Identifiers: chr5:g.127671396_127671399del (hg19) ; chr5:g.128335704_128335707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335705_128335708del , CM000667.2:g.128335705_128335708del	GRCh38
NC_000005.9:g.127671397_127671400del , CM000667.1:g.127671397_127671400del	GRCh37
NC_000005.8:g.127699296_127699299del	NCBI36
NG_008750.1:g.207337_207340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-130_509-127del
ENST00000703785.1:n.590-130_590-127del
ENST00000262464.9:c.3725-130_3725-127del MANE Select	ENSP00000262464.4:n.3725-130_3725-127del
ENST00000262464.8:c.3725-130_3725-127del	ENSP00000262464.4:n.3725-130_3725-127del
ENST00000507835.5:c.275-130_275-127del	ENSP00000426839.1:n.275-130_275-127del
ENST00000508053.5:c.3725-130_3725-127del	ENSP00000424571.1:n.3725-130_3725-127del
ENST00000508989.5:c.3626-130_3626-127del	ENSP00000425596.1:n.3626-130_3626-127del
ENST00000619499.4:c.3722-130_3722-127del	ENSP00000482132.1:n.3722-130_3722-127del
NM_001999.3:c.3725-130_3725-127del	NP_001990.2:n.3725-130_3725-127del
XM_017009228.2:c.3572-130_3572-127del	XP_016864717.1:n.3572-130_3572-127del
NM_001999.4:c.3725-130_3725-127del MANE Select	NP_001990.2:n.3725-130_3725-127del