Canonical Allele Identifier: CA360767525
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 946201
ClinVar RCV Id: RCV001217015
dbSNP Id: rs1751527556
gnomAD v3: 5-128357385-T-G
gnomAD v4: 5-128357385-T-G
MyVariant Identifiers: chr5:g.127693077T>G (hg19) chr5:g.128357385T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357385T>G , CM000667.2:g.128357385T>G GRCh38
NC_000005.9:g.127693077T>G , CM000667.1:g.127693077T>G GRCh37
NC_000005.8:g.127720976T>G NCBI36
NG_008750.1:g.185659A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2565A>C MANE Select ENSP00000262464.4:p.Glu855Asp
ENST00000262464.8:c.2565A>C ENSP00000262464.4:p.Glu855Asp
ENST00000508053.5:c.2565A>C ENSP00000424571.1:p.Glu855Asp
ENST00000508989.5:c.2466A>C ENSP00000425596.1:p.Glu822Asp
ENST00000619499.4:c.2562A>C ENSP00000482132.1:p.Glu854Asp
NM_001999.3:c.2565A>C NP_001990.2:p.Glu855Asp
XM_017009228.2:c.2412A>C XP_016864717.1:p.Glu804Asp
NM_001999.4:c.2565A>C MANE Select NP_001990.2:p.Glu855Asp
Search 100 bp 5'
Search 100 bp 3'