Canonical Allele Identifier: CA323462
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213256
dbSNP Id: rs146781484

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261843C>T , CM000667.2:g.128261843C>T GRCh38
NC_000005.9:g.127597535C>T , CM000667.1:g.127597535C>T GRCh37
NC_000005.8:g.127625434C>T NCBI36
NG_008750.1:g.281201G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8257G>A MANE Select ENSP00000262464.4:p.Glu2753Lys
ENST00000262464.8:c.8257G>A ENSP00000262464.4:p.Glu2753Lys
ENST00000508053.5:c.8257G>A ENSP00000424571.1:p.Glu2753Lys
ENST00000619499.4:n.8254G>A ENSP00000482132.1:p.Glu2752Lys
NM_001999.3:c.8257G>A NP_001990.2:p.Glu2753Lys
XM_017009228.2:c.8104G>A XP_016864717.1:p.Glu2702Lys
NM_001999.4:c.8257G>A MANE Select NP_001990.2:p.Glu2753Lys