Canonical Allele Identifier: CA1581261146
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1750234464
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128317378_128317381del , CM000667.2:g.128317378_128317381del GRCh38
NC_000005.9:g.127653070_127653073del , CM000667.1:g.127653070_127653073del GRCh37
NC_000005.8:g.127680969_127680972del NCBI36
NG_008750.1:g.225665_225668del

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1501+770_1501+773del
ENST00000703785.1:n.1582+770_1582+773del
ENST00000262464.9:c.4717+770_4717+773del MANE Select ENSP00000262464.4:n.4717+770_4717+773del
ENST00000262464.8:c.4717+770_4717+773del ENSP00000262464.4:n.4717+770_4717+773del
ENST00000508053.5:c.4717+770_4717+773del ENSP00000424571.1:n.4717+770_4717+773del
ENST00000619499.4:c.4714+770_4714+773del ENSP00000482132.1:n.4714+770_4714+773del
NM_001999.3:c.4717+770_4717+773del NP_001990.2:n.4717+770_4717+773del
XM_017009228.2:c.4564+770_4564+773del XP_016864717.1:n.4564+770_4564+773del
NM_001999.4:c.4717+770_4717+773del MANE Select NP_001990.2:n.4717+770_4717+773del
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