Canonical Allele Identifier: CA360767397
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458745
dbSNP Id: rs1297639505

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357330T>G , CM000667.2:g.128357330T>G GRCh38
NC_000005.9:g.127693022T>G , CM000667.1:g.127693022T>G GRCh37
NC_000005.8:g.127720921T>G NCBI36
NG_008750.1:g.185714A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2620A>C MANE Select ENSP00000262464.4:p.Asn874His
ENST00000262464.8:c.2620A>C ENSP00000262464.4:p.Asn874His
ENST00000508053.5:c.2620A>C ENSP00000424571.1:p.Asn874His
ENST00000508989.5:c.2521A>C ENSP00000425596.1:p.Asn841His
ENST00000619499.4:c.2617A>C ENSP00000482132.1:p.Asn873His
NM_001999.3:c.2620A>C NP_001990.2:p.Asn874His
XM_017009228.2:c.2467A>C XP_016864717.1:p.Asn823His
NM_001999.4:c.2620A>C MANE Select NP_001990.2:p.Asn874His