Canonical Allele Identifier: CA3394503
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 966498
dbSNP Id: rs547583705

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300909C>T , CM000667.2:g.128300909C>T GRCh38
NC_000005.9:g.127636601C>T , CM000667.1:g.127636601C>T GRCh37
NC_000005.8:g.127664500C>T NCBI36
NG_008750.1:g.242135G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2858G>A
ENST00000703785.1:n.2777G>A
ENST00000262464.9:c.6074G>A MANE Select ENSP00000262464.4:p.Gly2025Asp
ENST00000262464.8:c.6074G>A ENSP00000262464.4:p.Gly2025Asp
ENST00000508053.5:c.6074G>A ENSP00000424571.1:p.Gly2025Asp
ENST00000619499.4:c.6071G>A ENSP00000482132.1:p.Gly2024Asp
NM_001999.3:c.6074G>A NP_001990.2:p.Gly2025Asp
XM_017009228.2:c.5921G>A XP_016864717.1:p.Gly1974Asp
NM_001999.4:c.6074G>A MANE Select NP_001990.2:p.Gly2025Asp