Canonical Allele Identifier: CA281514
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 522
ClinVar RCV Id: RCV000000551
dbSNP Id: rs587776518

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128328823T>A , CM000667.2:g.128328823T>A GRCh38
NC_000005.9:g.127664515T>A , CM000667.1:g.127664515T>A GRCh37
NC_000005.8:g.127692414T>A NCBI36
NG_008750.1:g.214221A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.4346-2A>T MANE Select ENSP00000262464.4:n.4346-2A>T
ENST00000262464.8:c.4346-2A>T ENSP00000262464.4:n.4346-2A>T
ENST00000507835.5:c.896-2A>T ENSP00000426839.1:n.896-2A>T
ENST00000508053.5:c.4346-2A>T ENSP00000424571.1:n.4346-2A>T
ENST00000508989.5:c.4247-2A>T ENSP00000425596.1:n.4247-2A>T
ENST00000619499.4:n.4343-2A>T ENSP00000482132.1:n.4343-2A>T
NM_001999.3:c.4346-2A>T NP_001990.2:n.4346-2A>T
XM_017009228.2:c.4193-2A>T XP_016864717.1:n.4193-2A>T
NM_001999.4:c.4346-2A>T MANE Select NP_001990.2:n.4346-2A>T