Canonical Allele Identifier: CA803625737
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1179409049
MyVariant Identifiers: chr5:g.127652975del (hg19) chr5:g.128317283del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128317284del , CM000667.2:g.128317284del GRCh38
NC_000005.9:g.127652976del , CM000667.1:g.127652976del GRCh37
NC_000005.8:g.127680875del NCBI36
NG_008750.1:g.225761del

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1501+866del
ENST00000703785.1:n.1582+866del
ENST00000262464.9:c.4717+866del MANE Select ENSP00000262464.4:n.4717+866del
ENST00000262464.8:c.4717+866del ENSP00000262464.4:n.4717+866del
ENST00000508053.5:c.4717+866del ENSP00000424571.1:n.4717+866del
ENST00000619499.4:c.4714+866del ENSP00000482132.1:n.4714+866del
NM_001999.3:c.4717+866del NP_001990.2:n.4717+866del
XM_017009228.2:c.4564+866del XP_016864717.1:n.4564+866del
NM_001999.4:c.4717+866del MANE Select NP_001990.2:n.4717+866del
Search 100 bp 5'
Search 100 bp 3'