Canonical Allele Identifier: CA2675111459
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261606del , CM000667.2:g.128261606del GRCh38
NC_000005.9:g.127597298del , CM000667.1:g.127597298del GRCh37
NC_000005.8:g.127625197del NCBI36
NG_008750.1:g.281440del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8364+132del MANE Select ENSP00000262464.4:n.8364+132del
ENST00000262464.8:c.8364+132del ENSP00000262464.4:n.8364+132del
ENST00000508053.5:c.8364+132del ENSP00000424571.1:n.8364+132del
ENST00000619499.4:c.8361+132del ENSP00000482132.1:n.8361+132del
NM_001999.3:c.8364+132del NP_001990.2:n.8364+132del
XM_017009228.2:c.8211+132del XP_016864717.1:n.8211+132del
NM_001999.4:c.8364+132del MANE Select NP_001990.2:n.8364+132del