Canonical Allele Identifier: CA803634884
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1172507740
MyVariant Identifiers: chr5:g.127668942del (hg19) chr5:g.128333250del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128333250del , CM000667.2:g.128333250del GRCh38
NC_000005.9:g.127668942del , CM000667.1:g.127668942del GRCh37
NC_000005.8:g.127696841del NCBI36
NG_008750.1:g.209794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.884-216del
ENST00000703785.1:n.965-216del
ENST00000262464.9:c.4100-216del MANE Select ENSP00000262464.4:n.4100-216del
ENST00000262464.8:c.4100-216del ENSP00000262464.4:n.4100-216del
ENST00000507835.5:c.650-216del ENSP00000426839.1:n.650-216del
ENST00000508053.5:c.4100-216del ENSP00000424571.1:n.4100-216del
ENST00000508989.5:c.4001-216del ENSP00000425596.1:n.4001-216del
ENST00000619499.4:c.4097-216del ENSP00000482132.1:n.4097-216del
NM_001999.3:c.4100-216del NP_001990.2:n.4100-216del
XM_017009228.2:c.3947-216del XP_016864717.1:n.3947-216del
NM_001999.4:c.4100-216del MANE Select NP_001990.2:n.4100-216del
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