Canonical Allele Identifier: CA360759585
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 458759
dbSNP Id: rs1554123065

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338114C>T , CM000667.2:g.128338114C>T GRCh38
NC_000005.9:g.127673806C>T , CM000667.1:g.127673806C>T GRCh37
NC_000005.8:g.127701705C>T NCBI36
NG_008750.1:g.204930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.265G>A
ENST00000703785.1:n.346G>A
ENST00000262464.9:c.3481G>A MANE Select ENSP00000262464.4:p.Glu1161Lys
ENST00000262464.8:c.3481G>A ENSP00000262464.4:p.Glu1161Lys
ENST00000507835.5:c.31G>A ENSP00000426839.1:p.Glu11Lys
ENST00000508053.5:c.3481G>A ENSP00000424571.1:p.Glu1161Lys
ENST00000508989.5:c.3382G>A ENSP00000425596.1:p.Glu1128Lys
ENST00000619499.4:c.3478G>A ENSP00000482132.1:p.Glu1160Lys
NM_001999.3:c.3481G>A NP_001990.2:p.Glu1161Lys
XM_017009228.2:c.3328G>A XP_016864717.1:p.Glu1110Lys
NM_001999.4:c.3481G>A MANE Select NP_001990.2:p.Glu1161Lys