Canonical Allele Identifier: CA3394502
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 263401
dbSNP Id: rs139668142

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300906G>A , CM000667.2:g.128300906G>A GRCh38
NC_000005.9:g.127636598G>A , CM000667.1:g.127636598G>A GRCh37
NC_000005.8:g.127664497G>A NCBI36
NG_008750.1:g.242138C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2861C>T
ENST00000703785.1:n.2780C>T
ENST00000262464.9:c.6077C>T MANE Select ENSP00000262464.4:p.Ser2026Phe
ENST00000262464.8:c.6077C>T ENSP00000262464.4:p.Ser2026Phe
ENST00000508053.5:c.6077C>T ENSP00000424571.1:p.Ser2026Phe
ENST00000619499.4:c.6074C>T ENSP00000482132.1:p.Ser2025Phe
NM_001999.3:c.6077C>T NP_001990.2:p.Ser2026Phe
XM_017009228.2:c.5924C>T XP_016864717.1:p.Ser1975Phe
NM_001999.4:c.6077C>T MANE Select NP_001990.2:p.Ser2026Phe