Canonical Allele Identifier: CA3395253
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 239082
dbSNP Id: rs78484531

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128339054G>A , CM000667.2:g.128339054G>A GRCh38
NC_000005.9:g.127674746G>A , CM000667.1:g.127674746G>A GRCh37
NC_000005.8:g.127702645G>A NCBI36
NG_008750.1:g.203990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.135C>T
ENST00000703785.1:n.216C>T
ENST00000262464.9:c.3351C>T MANE Select ENSP00000262464.4:p.Asp1117=
ENST00000262464.8:c.3351C>T ENSP00000262464.4:p.Asp1117=
ENST00000507835.5:c.-100C>T ENSP00000426839.1:n.-100C>T
ENST00000508053.5:c.3351C>T ENSP00000424571.1:p.Asp1117=
ENST00000508989.5:c.3252C>T ENSP00000425596.1:p.Asp1084=
ENST00000619499.4:c.3348C>T ENSP00000482132.1:p.Asp1116=
NM_001999.3:c.3351C>T NP_001990.2:p.Asp1117=
XM_017009228.2:c.3198C>T XP_016864717.1:p.Asp1066=
NM_001999.4:c.3351C>T MANE Select NP_001990.2:p.Asp1117=