Canonical Allele Identifier: CA360767317
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127692989A>T (hg19) chr5:g.128357297A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357297A>T , CM000667.2:g.128357297A>T GRCh38
NC_000005.9:g.127692989A>T , CM000667.1:g.127692989A>T GRCh37
NC_000005.8:g.127720888A>T NCBI36
NG_008750.1:g.185747T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2653T>A MANE Select ENSP00000262464.4:p.Ser885Thr
ENST00000262464.8:c.2653T>A ENSP00000262464.4:p.Ser885Thr
ENST00000508053.5:c.2653T>A ENSP00000424571.1:p.Ser885Thr
ENST00000508989.5:c.2554T>A ENSP00000425596.1:p.Ser852Thr
ENST00000619499.4:c.2650T>A ENSP00000482132.1:p.Ser884Thr
NM_001999.3:c.2653T>A NP_001990.2:p.Ser885Thr
XM_017009228.2:c.2500T>A XP_016864717.1:p.Ser834Thr
NM_001999.4:c.2653T>A MANE Select NP_001990.2:p.Ser885Thr
Search 100 bp 5'
Search 100 bp 3'