Canonical Allele Identifier: CA324547
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213320
ClinVar RCV Id: RCV000199998
dbSNP Id: rs863223570
MyVariant Identifiers: chr5:g.127671678A>G (hg19) chr5:g.128335986A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335986A>G , CM000667.2:g.128335986A>G GRCh38
NC_000005.9:g.127671678A>G , CM000667.1:g.127671678A>G GRCh37
NC_000005.8:g.127699577A>G NCBI36
NG_008750.1:g.207058T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.508+2T>C
ENST00000703785.1:n.589+2T>C
ENST00000262464.9:c.3724+2T>C MANE Select ENSP00000262464.4:n.3724+2T>C
ENST00000262464.8:c.3724+2T>C ENSP00000262464.4:n.3724+2T>C
ENST00000507835.5:c.274+2T>C ENSP00000426839.1:n.274+2T>C
ENST00000508053.5:c.3724+2T>C ENSP00000424571.1:n.3724+2T>C
ENST00000508989.5:c.3625+2T>C ENSP00000425596.1:n.3625+2T>C
ENST00000619499.4:c.3721+2T>C ENSP00000482132.1:n.3721+2T>C
NM_001999.3:c.3724+2T>C NP_001990.2:n.3724+2T>C
XM_017009228.2:c.3571+2T>C XP_016864717.1:n.3571+2T>C
NM_001999.4:c.3724+2T>C MANE Select NP_001990.2:n.3724+2T>C
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