Canonical Allele Identifier: CA446308433
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127654626A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128318934A>G , CM000667.2:g.128318934A>G GRCh38
NC_000005.9:g.127654626A>G , CM000667.1:g.127654626A>G GRCh37
NC_000005.8:g.127682525A>G NCBI36
NG_008750.1:g.224110T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1323T>C
ENST00000703785.1:n.1404T>C
ENST00000262464.9:c.4539T>C MANE Select ENSP00000262464.4:p.Phe1513=
ENST00000262464.8:c.4539T>C ENSP00000262464.4:p.Phe1513=
ENST00000508053.5:c.4539T>C ENSP00000424571.1:p.Phe1513=
ENST00000619499.4:c.4536T>C ENSP00000482132.1:p.Phe1512=
NM_001999.3:c.4539T>C NP_001990.2:p.Phe1513=
XM_017009228.2:c.4386T>C XP_016864717.1:p.Phe1462=
NM_001999.4:c.4539T>C MANE Select NP_001990.2:p.Phe1513=
Search 100 bp 5'
Search 100 bp 3'