Canonical Allele Identifier: CA446312300
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2496939
ClinVar RCV Id: RCV003216516
dbSNP Id: rs1163075037
gnomAD v2: 5-127692972-A-G
MyVariant Identifiers: chr5:g.127692972A>G (hg19) chr5:g.128357280A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357280A>G , CM000667.2:g.128357280A>G GRCh38
NC_000005.9:g.127692972A>G , CM000667.1:g.127692972A>G GRCh37
NC_000005.8:g.127720871A>G NCBI36
NG_008750.1:g.185764T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2670T>C MANE Select ENSP00000262464.4:p.Cys890=
ENST00000262464.8:c.2670T>C ENSP00000262464.4:p.Cys890=
ENST00000508053.5:c.2670T>C ENSP00000424571.1:p.Cys890=
ENST00000508989.5:c.2571T>C ENSP00000425596.1:p.Cys857=
ENST00000619499.4:c.2667T>C ENSP00000482132.1:p.Cys889=
NM_001999.3:c.2670T>C NP_001990.2:p.Cys890=
XM_017009228.2:c.2517T>C XP_016864717.1:p.Cys839=
NM_001999.4:c.2670T>C MANE Select NP_001990.2:p.Cys890=
Search 100 bp 5'
Search 100 bp 3'