Canonical Allele Identifier: CA2675114516
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305082_128305084del , CM000667.2:g.128305082_128305084del GRCh38
NC_000005.9:g.127640774_127640776del , CM000667.1:g.127640774_127640776del GRCh37
NC_000005.8:g.127668673_127668675del NCBI36
NG_008750.1:g.237960_237962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2459-2_2459del
ENST00000703785.1:n.2378-2_2378del
ENST00000262464.9:c.5675-2_5675del
ENST00000262464.8:c.5675-2_5675del
ENST00000508053.5:c.5675-2_5675del
ENST00000619499.4:c.5672-2_5672del
NM_001999.3:c.5675-2_5675del
XM_017009228.2:c.5522-2_5522del
NM_001999.4:c.5675-2_5675del