Canonical Allele Identifier: CA281516
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 525
ClinVar RCV Id: RCV000000554
dbSNP Id: rs137852827

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344385C>G , CM000667.2:g.128344385C>G GRCh38
NC_000005.9:g.127680077C>G , CM000667.1:g.127680077C>G GRCh37
NC_000005.8:g.127707976C>G NCBI36
NG_008750.1:g.198659G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.3343G>C MANE Select ENSP00000262464.4:p.Asp1115His
ENST00000262464.8:c.3343G>C ENSP00000262464.4:p.Asp1115His
ENST00000508053.5:c.3343G>C ENSP00000424571.1:p.Asp1115His
ENST00000508989.5:c.3244G>C ENSP00000425596.1:p.Asp1082His
ENST00000619499.4:n.3340G>C ENSP00000482132.1:p.Asp1114His
NM_001999.3:c.3343G>C NP_001990.2:p.Asp1115His
XM_017009228.2:c.3190G>C XP_016864717.1:p.Asp1064His
NM_001999.4:c.3343G>C MANE Select NP_001990.2:p.Asp1115His