Canonical Allele Identifier: CA360747892
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127597552A>T (hg19) chr5:g.128261860A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261860A>T , CM000667.2:g.128261860A>T GRCh38
NC_000005.9:g.127597552A>T , CM000667.1:g.127597552A>T GRCh37
NC_000005.8:g.127625451A>T NCBI36
NG_008750.1:g.281184T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8240T>A MANE Select ENSP00000262464.4:p.Leu2747Gln
ENST00000262464.8:c.8240T>A ENSP00000262464.4:p.Leu2747Gln
ENST00000508053.5:c.8240T>A ENSP00000424571.1:p.Leu2747Gln
ENST00000619499.4:c.8237T>A ENSP00000482132.1:p.Leu2746Gln
NM_001999.3:c.8240T>A NP_001990.2:p.Leu2747Gln
XM_017009228.2:c.8087T>A XP_016864717.1:p.Leu2696Gln
NM_001999.4:c.8240T>A MANE Select NP_001990.2:p.Leu2747Gln
Search 100 bp 5'
Search 100 bp 3'