Canonical Allele Identifier: CA446307571
Gene: FBN2 HGNC NCBI

Linked Data

COSMIC: COSM317348 COSM317349
MyVariant Identifiers: chr5:g.127648336A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128312644A>T , CM000667.2:g.128312644A>T GRCh38
NC_000005.9:g.127648336A>T , CM000667.1:g.127648336A>T GRCh37
NC_000005.8:g.127676235A>T NCBI36
NG_008750.1:g.230400T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1653T>A
ENST00000703785.1:n.1583-691T>A
ENST00000262464.9:c.4869T>A MANE Select ENSP00000262464.4:p.Pro1623=
ENST00000262464.8:c.4869T>A ENSP00000262464.4:p.Pro1623=
ENST00000508053.5:c.4869T>A ENSP00000424571.1:p.Pro1623=
ENST00000619499.4:c.4866T>A ENSP00000482132.1:p.Pro1622=
NM_001999.3:c.4869T>A NP_001990.2:p.Pro1623=
XM_017009228.2:c.4716T>A XP_016864717.1:p.Pro1572=
NM_001999.4:c.4869T>A MANE Select NP_001990.2:p.Pro1623=
Search 100 bp 5'
Search 100 bp 3'