Canonical Allele Identifier: CA351839
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222629
ClinVar RCV Id: RCV000208190
dbSNP Id: rs869025428
MyVariant Identifiers: chr5:g.127674753T>A (hg19) chr5:g.128339061T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128339061T>A , CM000667.2:g.128339061T>A GRCh38
NC_000005.9:g.127674753T>A , CM000667.1:g.127674753T>A GRCh37
NC_000005.8:g.127702652T>A NCBI36
NG_008750.1:g.203983A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.128A>T
ENST00000703785.1:n.209A>T
ENST00000262464.9:c.3344A>T MANE Select ENSP00000262464.4:p.Asp1115Val
ENST00000262464.8:c.3344A>T ENSP00000262464.4:p.Asp1115Val
ENST00000507835.5:c.-107A>T ENSP00000426839.1:n.-107A>T
ENST00000508053.5:c.3344A>T ENSP00000424571.1:p.Asp1115Val
ENST00000508989.5:c.3245A>T ENSP00000425596.1:p.Asp1082Val
ENST00000619499.4:c.3341A>T ENSP00000482132.1:p.Asp1114Val
NM_001999.3:c.3344A>T NP_001990.2:p.Asp1115Val
XM_017009228.2:c.3191A>T XP_016864717.1:p.Asp1064Val
NM_001999.4:c.3344A>T MANE Select NP_001990.2:p.Asp1115Val
Search 100 bp 5'
Search 100 bp 3'