Canonical Allele Identifier: CA446306416
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127640755T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305063T>C , CM000667.2:g.128305063T>C GRCh38
NC_000005.9:g.127640755T>C , CM000667.1:g.127640755T>C GRCh37
NC_000005.8:g.127668654T>C NCBI36
NG_008750.1:g.237981A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2478A>G
ENST00000703785.1:n.2397A>G
ENST00000262464.9:c.5694A>G MANE Select ENSP00000262464.4:p.Glu1898=
ENST00000262464.8:c.5694A>G ENSP00000262464.4:p.Glu1898=
ENST00000508053.5:c.5694A>G ENSP00000424571.1:p.Glu1898=
ENST00000619499.4:c.5691A>G ENSP00000482132.1:p.Glu1897=
NM_001999.3:c.5694A>G NP_001990.2:p.Glu1898=
XM_017009228.2:c.5541A>G XP_016864717.1:p.Glu1847=
NM_001999.4:c.5694A>G MANE Select NP_001990.2:p.Glu1898=
Search 100 bp 5'
Search 100 bp 3'