Canonical Allele Identifier: CA2675117138

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335631-TTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335637_128335639del , CM000667.2:g.128335637_128335639del	GRCh38
NC_000005.9:g.127671329_127671331del , CM000667.1:g.127671329_127671331del	GRCh37
NC_000005.8:g.127699228_127699230del	NCBI36
NG_008750.1:g.207410_207412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.509-57_509-55del
ENST00000703785.1:n.590-57_590-55del
ENST00000262464.9:c.3725-57_3725-55del MANE Select	ENSP00000262464.4:n.3725-57_3725-55del
ENST00000262464.8:c.3725-57_3725-55del	ENSP00000262464.4:n.3725-57_3725-55del
ENST00000507835.5:c.275-57_275-55del	ENSP00000426839.1:n.275-57_275-55del
ENST00000508053.5:c.3725-57_3725-55del	ENSP00000424571.1:n.3725-57_3725-55del
ENST00000508989.5:c.3626-57_3626-55del	ENSP00000425596.1:n.3626-57_3626-55del
ENST00000619499.4:c.3722-57_3722-55del	ENSP00000482132.1:n.3722-57_3722-55del
NM_001999.3:c.3725-57_3725-55del	NP_001990.2:n.3725-57_3725-55del
XM_017009228.2:c.3572-57_3572-55del	XP_016864717.1:n.3572-57_3572-55del
NM_001999.4:c.3725-57_3725-55del MANE Select	NP_001990.2:n.3725-57_3725-55del