Canonical Allele Identifier: CA360740004
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.128305033_128305037del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305034_128305038del , CM000667.2:g.128305034_128305038del GRCh38
NC_000005.9:g.127640726_127640730del , CM000667.1:g.127640726_127640730del GRCh37
NC_000005.8:g.127668625_127668629del NCBI36
NG_008750.1:g.238007_238011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2504_2508del
ENST00000703785.1:n.2423_2427del
ENST00000262464.9:c.5720_5724del MANE Select ENSP00000262464.4:p.Leu1907CysfsTer2
ENST00000262464.8:c.5720_5724del ENSP00000262464.4:p.Leu1907CysfsTer2
ENST00000508053.5:c.5720_5724del ENSP00000424571.1:p.Leu1907CysfsTer2
ENST00000619499.4:c.5717_5721del ENSP00000482132.1:p.Leu1906CysfsTer2
NM_001999.3:c.5720_5724del NP_001990.2:p.Leu1907CysfsTer2
XM_017009228.2:c.5567_5571del XP_016864717.1:p.Leu1856CysfsTer2
NM_001999.4:c.5720_5724del MANE Select NP_001990.2:p.Leu1907CysfsTer2
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