Canonical Allele Identifier: CA324088
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213224
dbSNP Id: rs371502563

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357325A>G , CM000667.2:g.128357325A>G GRCh38
NC_000005.9:g.127693017A>G , CM000667.1:g.127693017A>G GRCh37
NC_000005.8:g.127720916A>G NCBI36
NG_008750.1:g.185719T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2625T>C MANE Select ENSP00000262464.4:p.Cys875=
ENST00000262464.8:c.2625T>C ENSP00000262464.4:p.Cys875=
ENST00000508053.5:c.2625T>C ENSP00000424571.1:p.Cys875=
ENST00000508989.5:c.2526T>C ENSP00000425596.1:p.Cys842=
ENST00000619499.4:n.2622T>C ENSP00000482132.1:p.Cys874=
NM_001999.3:c.2625T>C NP_001990.2:p.Cys875=
XM_017009228.2:c.2472T>C XP_016864717.1:p.Cys824=
NM_001999.4:c.2625T>C MANE Select NP_001990.2:p.Cys875=