Canonical Allele Identifier: CA2675114233

Gene: FBN2

Linked Data

• gnomAD v4: 5-128301317-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301318del , CM000667.2:g.128301318del	GRCh38
NC_000005.9:g.127637010del , CM000667.1:g.127637010del	GRCh37
NC_000005.8:g.127664909del	NCBI36
NG_008750.1:g.241726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+64del
ENST00000703785.1:n.2749+64del
ENST00000262464.9:c.6046+64del MANE Select	ENSP00000262464.4:n.6046+64del
ENST00000262464.8:c.6046+64del	ENSP00000262464.4:n.6046+64del
ENST00000508053.5:c.6046+64del	ENSP00000424571.1:n.6046+64del
ENST00000619499.4:c.6043+64del	ENSP00000482132.1:n.6043+64del
NM_001999.3:c.6046+64del	NP_001990.2:n.6046+64del
XM_017009228.2:c.5893+64del	XP_016864717.1:n.5893+64del
NM_001999.4:c.6046+64del MANE Select	NP_001990.2:n.6046+64del