Canonical Allele Identifier: CA3395422
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 258514
dbSNP Id: rs255690

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128349932C>A , CM000667.2:g.128349932C>A GRCh38
NC_000005.9:g.127685624C>A , CM000667.1:g.127685624C>A GRCh37
NC_000005.8:g.127713523C>A NCBI36
NG_008750.1:g.193112G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2863+23G>T MANE Select ENSP00000262464.4:n.2863+23G>T
ENST00000262464.8:c.2863+23G>T ENSP00000262464.4:n.2863+23G>T
ENST00000508053.5:c.2863+23G>T ENSP00000424571.1:n.2863+23G>T
ENST00000508989.5:c.2764+23G>T ENSP00000425596.1:n.2764+23G>T
ENST00000619499.4:c.2860+23G>T ENSP00000482132.1:n.2860+23G>T
NM_001999.3:c.2863+23G>T NP_001990.2:n.2863+23G>T
XM_017009228.2:c.2710+23G>T XP_016864717.1:n.2710+23G>T
NM_001999.4:c.2863+23G>T MANE Select NP_001990.2:n.2863+23G>T