Canonical Allele Identifier: CA803648466
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1411531978
MyVariant Identifiers: chr5:g.127730681_127730682insT (hg19) chr5:g.128394988_128394989insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128394990dup , CM000667.2:g.128394990dup GRCh38
NC_000005.9:g.127730683dup , CM000667.1:g.127730683dup GRCh37
NC_000005.8:g.127758582dup NCBI36
NG_008750.1:g.148054dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+133dup
ENST00000262464.9:c.1231+133dup MANE Select ENSP00000262464.4:n.1231+133dup
ENST00000262464.8:c.1231+133dup ENSP00000262464.4:n.1231+133dup
ENST00000508053.5:c.1231+133dup ENSP00000424571.1:n.1231+133dup
ENST00000508989.5:c.1132+133dup ENSP00000425596.1:n.1132+133dup
ENST00000619499.4:c.1228+133dup ENSP00000482132.1:n.1228+133dup
NM_001999.3:c.1231+133dup NP_001990.2:n.1231+133dup
XM_017009228.2:c.1079-1621dup XP_016864717.1:n.1079-1621dup
NM_001999.4:c.1231+133dup MANE Select NP_001990.2:n.1231+133dup
Search 100 bp 5'
Search 100 bp 3'