Canonical Allele Identifier: CA2675118066
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128344235-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344235A>T , CM000667.2:g.128344235A>T GRCh38
NC_000005.9:g.127679927A>T , CM000667.1:g.127679927A>T GRCh37
NC_000005.8:g.127707826A>T NCBI36
NG_008750.1:g.198809T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3343+150T>A MANE Select ENSP00000262464.4:n.3343+150T>A
ENST00000262464.8:c.3343+150T>A ENSP00000262464.4:n.3343+150T>A
ENST00000508053.5:c.3343+150T>A ENSP00000424571.1:n.3343+150T>A
ENST00000508989.5:c.3244+150T>A ENSP00000425596.1:n.3244+150T>A
ENST00000619499.4:c.3340+150T>A ENSP00000482132.1:n.3340+150T>A
NM_001999.3:c.3343+150T>A NP_001990.2:n.3343+150T>A
XM_017009228.2:c.3190+150T>A XP_016864717.1:n.3190+150T>A
NM_001999.4:c.3343+150T>A MANE Select NP_001990.2:n.3343+150T>A
Search 100 bp 5'
Search 100 bp 3'