Canonical Allele Identifier: CA2675116675
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330825_128330826del , CM000667.2:g.128330825_128330826del GRCh38
NC_000005.9:g.127666517_127666518del , CM000667.1:g.127666517_127666518del GRCh37
NC_000005.8:g.127694416_127694417del NCBI36
NG_008750.1:g.212219_212220del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1007-130_1007-129del
ENST00000703785.1:n.1088-130_1088-129del
ENST00000262464.9:c.4223-130_4223-129del MANE Select ENSP00000262464.4:n.4223-130_4223-129del
ENST00000262464.8:c.4223-130_4223-129del ENSP00000262464.4:n.4223-130_4223-129del
ENST00000507835.5:c.773-130_773-129del ENSP00000426839.1:n.773-130_773-129del
ENST00000508053.5:c.4223-130_4223-129del ENSP00000424571.1:n.4223-130_4223-129del
ENST00000508989.5:c.4124-130_4124-129del ENSP00000425596.1:n.4124-130_4124-129del
ENST00000619499.4:c.4220-130_4220-129del ENSP00000482132.1:n.4220-130_4220-129del
NM_001999.3:c.4223-130_4223-129del NP_001990.2:n.4223-130_4223-129del
XM_017009228.2:c.4070-130_4070-129del XP_016864717.1:n.4070-130_4070-129del
NM_001999.4:c.4223-130_4223-129del MANE Select NP_001990.2:n.4223-130_4223-129del