Canonical Allele Identifier: CA3394603
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1749587
ClinVar RCV Id: RCV002359695
dbSNP Id: rs756700088

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304978G>T , CM000667.2:g.128304978G>T GRCh38
NC_000005.9:g.127640670G>T , CM000667.1:g.127640670G>T GRCh37
NC_000005.8:g.127668569G>T NCBI36
NG_008750.1:g.238066C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2563C>A
ENST00000703785.1:n.2482C>A
ENST00000262464.9:c.5779C>A MANE Select ENSP00000262464.4:p.Gln1927Lys
ENST00000262464.8:c.5779C>A ENSP00000262464.4:p.Gln1927Lys
ENST00000508053.5:c.5779C>A ENSP00000424571.1:p.Gln1927Lys
ENST00000619499.4:c.5776C>A ENSP00000482132.1:p.Gln1926Lys
NM_001999.3:c.5779C>A NP_001990.2:p.Gln1927Lys
XM_017009228.2:c.5626C>A XP_016864717.1:p.Gln1876Lys
NM_001999.4:c.5779C>A MANE Select NP_001990.2:p.Gln1927Lys