Canonical Allele Identifier: CA2675115624

Gene: FBN2

Linked Data

• gnomAD v4: 5-128312484-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312486del , CM000667.2:g.128312486del	GRCh38
NC_000005.9:g.127648178del , CM000667.1:g.127648178del	GRCh37
NC_000005.8:g.127676077del	NCBI36
NG_008750.1:g.230559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1663+149del
ENST00000703785.1:n.1583-532del
ENST00000262464.9:c.4879+149del MANE Select	ENSP00000262464.4:n.4879+149del
ENST00000262464.8:c.4879+149del	ENSP00000262464.4:n.4879+149del
ENST00000508053.5:c.4879+149del	ENSP00000424571.1:n.4879+149del
ENST00000619499.4:c.4876+149del	ENSP00000482132.1:n.4876+149del
NM_001999.3:c.4879+149del	NP_001990.2:n.4879+149del
XM_017009228.2:c.4726+149del	XP_016864717.1:n.4726+149del
NM_001999.4:c.4879+149del MANE Select	NP_001990.2:n.4879+149del