Canonical Allele Identifier: CA2675116816

Gene: FBN2

Linked Data

• gnomAD v4: 5-128333166-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333170del , CM000667.2:g.128333170del	GRCh38
NC_000005.9:g.127668862del , CM000667.1:g.127668862del	GRCh37
NC_000005.8:g.127696761del	NCBI36
NG_008750.1:g.209877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-133del
ENST00000703785.1:n.965-133del
ENST00000262464.9:c.4100-133del MANE Select	ENSP00000262464.4:n.4100-133del
ENST00000262464.8:c.4100-133del	ENSP00000262464.4:n.4100-133del
ENST00000507835.5:c.650-133del	ENSP00000426839.1:n.650-133del
ENST00000508053.5:c.4100-133del	ENSP00000424571.1:n.4100-133del
ENST00000508989.5:c.4001-133del	ENSP00000425596.1:n.4001-133del
ENST00000619499.4:c.4097-133del	ENSP00000482132.1:n.4097-133del
NM_001999.3:c.4100-133del	NP_001990.2:n.4100-133del
XM_017009228.2:c.3947-133del	XP_016864717.1:n.3947-133del
NM_001999.4:c.4100-133del MANE Select	NP_001990.2:n.4100-133del