Canonical Allele Identifier: CA446312323
Gene: FBN2 HGNC NCBI

Linked Data

COSMIC: COSM362363 COSM362364
MyVariant Identifiers: chr5:g.127693005G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357313G>T , CM000667.2:g.128357313G>T GRCh38
NC_000005.9:g.127693005G>T , CM000667.1:g.127693005G>T GRCh37
NC_000005.8:g.127720904G>T NCBI36
NG_008750.1:g.185731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2637C>A MANE Select ENSP00000262464.4:p.Pro879=
ENST00000262464.8:c.2637C>A ENSP00000262464.4:p.Pro879=
ENST00000508053.5:c.2637C>A ENSP00000424571.1:p.Pro879=
ENST00000508989.5:c.2538C>A ENSP00000425596.1:p.Pro846=
ENST00000619499.4:c.2634C>A ENSP00000482132.1:p.Pro878=
NM_001999.3:c.2637C>A NP_001990.2:p.Pro879=
XM_017009228.2:c.2484C>A XP_016864717.1:p.Pro828=
NM_001999.4:c.2637C>A MANE Select NP_001990.2:p.Pro879=
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