Canonical Allele Identifier: CA322014
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213404
dbSNP Id: rs375487064

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304952C>T , CM000667.2:g.128304952C>T GRCh38
NC_000005.9:g.127640644C>T , CM000667.1:g.127640644C>T GRCh37
NC_000005.8:g.127668543C>T NCBI36
NG_008750.1:g.238092G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2584+5G>A
ENST00000703785.1:n.2503+5G>A
ENST00000262464.9:c.5800+5G>A MANE Select ENSP00000262464.4:n.5800+5G>A
ENST00000262464.8:c.5800+5G>A ENSP00000262464.4:n.5800+5G>A
ENST00000508053.5:c.5800+5G>A ENSP00000424571.1:n.5800+5G>A
ENST00000619499.4:c.5797+5G>A ENSP00000482132.1:n.5797+5G>A
NM_001999.3:c.5800+5G>A NP_001990.2:n.5800+5G>A
XM_017009228.2:c.5647+5G>A XP_016864717.1:n.5647+5G>A
NM_001999.4:c.5800+5G>A MANE Select NP_001990.2:n.5800+5G>A