Canonical Allele Identifier: CA3395275
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458756
dbSNP Id: rs765437414

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344438T>G , CM000667.2:g.128344438T>G GRCh38
NC_000005.9:g.127680130T>G , CM000667.1:g.127680130T>G GRCh37
NC_000005.8:g.127708029T>G NCBI36
NG_008750.1:g.198606A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3290A>C MANE Select ENSP00000262464.4:p.Lys1097Thr
ENST00000262464.8:c.3290A>C ENSP00000262464.4:p.Lys1097Thr
ENST00000508053.5:c.3290A>C ENSP00000424571.1:p.Lys1097Thr
ENST00000508989.5:c.3191A>C ENSP00000425596.1:p.Lys1064Thr
ENST00000619499.4:c.3287A>C ENSP00000482132.1:p.Lys1096Thr
NM_001999.3:c.3290A>C NP_001990.2:p.Lys1097Thr
XM_017009228.2:c.3137A>C XP_016864717.1:p.Lys1046Thr
NM_001999.4:c.3290A>C MANE Select NP_001990.2:p.Lys1097Thr