Canonical Allele Identifier: CA446305644
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127597449A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261757A>G , CM000667.2:g.128261757A>G GRCh38
NC_000005.9:g.127597449A>G , CM000667.1:g.127597449A>G GRCh37
NC_000005.8:g.127625348A>G NCBI36
NG_008750.1:g.281287T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8343T>C MANE Select ENSP00000262464.4:p.Ile2781=
ENST00000262464.8:c.8343T>C ENSP00000262464.4:p.Ile2781=
ENST00000508053.5:c.8343T>C ENSP00000424571.1:p.Ile2781=
ENST00000619499.4:c.8340T>C ENSP00000482132.1:p.Ile2780=
NM_001999.3:c.8343T>C NP_001990.2:p.Ile2781=
XM_017009228.2:c.8190T>C XP_016864717.1:p.Ile2730=
NM_001999.4:c.8343T>C MANE Select NP_001990.2:p.Ile2781=
Search 100 bp 5'
Search 100 bp 3'