Canonical Allele Identifier: CA360747888
Gene: FBN2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8240T>C MANE Select ENSP00000262464.4:p.Leu2747Pro
ENST00000262464.8:c.8240T>C ENSP00000262464.4:p.Leu2747Pro
ENST00000508053.5:c.8240T>C ENSP00000424571.1:p.Leu2747Pro
ENST00000619499.4:c.8237T>C ENSP00000482132.1:p.Leu2746Pro
NM_001999.3:c.8240T>C NP_001990.2:p.Leu2747Pro
XM_017009228.2:c.8087T>C XP_016864717.1:p.Leu2696Pro
NM_001999.4:c.8240T>C MANE Select NP_001990.2:p.Leu2747Pro
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