Canonical Allele Identifier: CA803627072
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1373960218
MyVariant Identifiers: chr5:g.127637030_127637031insA (hg19) chr5:g.128301338_128301339insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301342dup , CM000667.2:g.128301342dup GRCh38
NC_000005.9:g.127637034dup , CM000667.1:g.127637034dup GRCh37
NC_000005.8:g.127664933dup NCBI36
NG_008750.1:g.241705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2830+43dup
ENST00000703785.1:n.2749+43dup
ENST00000262464.9:c.6046+43dup MANE Select ENSP00000262464.4:n.6046+43dup
ENST00000262464.8:c.6046+43dup ENSP00000262464.4:n.6046+43dup
ENST00000508053.5:c.6046+43dup ENSP00000424571.1:n.6046+43dup
ENST00000619499.4:c.6043+43dup ENSP00000482132.1:n.6043+43dup
NM_001999.3:c.6046+43dup NP_001990.2:n.6046+43dup
XM_017009228.2:c.5893+43dup XP_016864717.1:n.5893+43dup
NM_001999.4:c.6046+43dup MANE Select NP_001990.2:n.6046+43dup
Search 100 bp 5'
Search 100 bp 3'