Canonical Allele Identifier: CA127005773
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349195
ClinVar RCV Id: RCV002035150
dbSNP Id: rs866719857
gnomAD v2: 5-127666379-C-T
gnomAD v4: 5-128330687-C-T
COSMIC: COSM3608188 COSM3608189
MyVariant Identifiers: chr5:g.127666379C>T (hg19) chr5:g.128330687C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330687C>T , CM000667.2:g.128330687C>T GRCh38
NC_000005.9:g.127666379C>T , CM000667.1:g.127666379C>T GRCh37
NC_000005.8:g.127694278C>T NCBI36
NG_008750.1:g.212357G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1015G>A
ENST00000703785.1:n.1096G>A
ENST00000262464.9:c.4231G>A MANE Select ENSP00000262464.4:p.Glu1411Lys
ENST00000262464.8:c.4231G>A ENSP00000262464.4:p.Glu1411Lys
ENST00000507835.5:c.781G>A ENSP00000426839.1:p.Glu261Lys
ENST00000508053.5:c.4231G>A ENSP00000424571.1:p.Glu1411Lys
ENST00000508989.5:c.4132G>A ENSP00000425596.1:p.Glu1378Lys
ENST00000619499.4:c.4228G>A ENSP00000482132.1:p.Glu1410Lys
NM_001999.3:c.4231G>A NP_001990.2:p.Glu1411Lys
XM_017009228.2:c.4078G>A XP_016864717.1:p.Glu1360Lys
NM_001999.4:c.4231G>A MANE Select NP_001990.2:p.Glu1411Lys
Search 100 bp 5'
Search 100 bp 3'