Canonical Allele Identifier: CA3395003
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1739752
ClinVar RCV Id: RCV002332089
dbSNP Id: rs777630883
ExAC: 5:127666281 A / G
gnomAD v2: 5-127666281-A-G
gnomAD v4: 5-128330589-A-G
MyVariant Identifiers: chr5:g.127666281A>G (hg19) chr5:g.128330589A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330589A>G , CM000667.2:g.128330589A>G GRCh38
NC_000005.9:g.127666281A>G , CM000667.1:g.127666281A>G GRCh37
NC_000005.8:g.127694180A>G NCBI36
NG_008750.1:g.212455T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1113T>C
ENST00000703785.1:n.1194T>C
ENST00000262464.9:c.4329T>C MANE Select ENSP00000262464.4:p.Asp1443=
ENST00000262464.8:c.4329T>C ENSP00000262464.4:p.Asp1443=
ENST00000507835.5:c.879T>C ENSP00000426839.1:p.Asp293=
ENST00000508053.5:c.4329T>C ENSP00000424571.1:p.Asp1443=
ENST00000508989.5:c.4230T>C ENSP00000425596.1:p.Asp1410=
ENST00000619499.4:c.4326T>C ENSP00000482132.1:p.Asp1442=
NM_001999.3:c.4329T>C NP_001990.2:p.Asp1443=
XM_017009228.2:c.4176T>C XP_016864717.1:p.Asp1392=
NM_001999.4:c.4329T>C MANE Select NP_001990.2:p.Asp1443=
Search 100 bp 5'
Search 100 bp 3'