Canonical Allele Identifier: CA1581358806

Gene: FBN2

Linked Data

• dbSNP Id: rs1756591358

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527467_128527469del , CM000667.2:g.128527467_128527469del	GRCh38
NC_000005.9:g.127863160_127863162del , CM000667.1:g.127863160_127863162del	GRCh37
NC_000005.8:g.127891059_127891061del	NCBI36
NG_008750.1:g.15576_15578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.532+405_532+407del	ENSP00000424571.2:n.532+405_532+407del
ENST00000703787.1:n.239+405_239+407del
ENST00000262464.9:c.532+405_532+407del MANE Select	ENSP00000262464.4:n.532+405_532+407del
ENST00000262464.8:c.532+405_532+407del	ENSP00000262464.4:n.532+405_532+407del
ENST00000502468.5:c.532+405_532+407del	ENSP00000424753.1:n.532+405_532+407del
ENST00000508053.5:c.532+405_532+407del	ENSP00000424571.1:n.532+405_532+407del
ENST00000508989.5:c.433+405_433+407del	ENSP00000425596.1:n.433+405_433+407del
ENST00000514742.1:n.1152+405_1152+407del
ENST00000619499.4:c.532+405_532+407del	ENSP00000482132.1:n.532+405_532+407del
ENST00000620257.1:c.532+405_532+407del	ENSP00000479157.1:n.532+405_532+407del
NM_001999.3:c.532+405_532+407del	NP_001990.2:n.532+405_532+407del
XM_017009228.2:c.532+405_532+407del	XP_016864717.1:n.532+405_532+407del
NM_001999.4:c.532+405_532+407del MANE Select	NP_001990.2:n.532+405_532+407del