Canonical Allele Identifier: CA320528
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213425
dbSNP Id: rs749681942

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128286771A>G , CM000667.2:g.128286771A>G GRCh38
NC_000005.9:g.127622463A>G , CM000667.1:g.127622463A>G GRCh37
NC_000005.8:g.127650362A>G NCBI36
NG_008750.1:g.256273T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.3743T>C
ENST00000262464.9:c.6959T>C MANE Select ENSP00000262464.4:p.Met2320Thr
ENST00000262464.8:c.6959T>C ENSP00000262464.4:p.Met2320Thr
ENST00000508053.5:c.6959T>C ENSP00000424571.1:p.Met2320Thr
ENST00000619499.4:c.6956T>C ENSP00000482132.1:p.Met2319Thr
NM_001999.3:c.6959T>C NP_001990.2:p.Met2320Thr
XM_017009228.2:c.6806T>C XP_016864717.1:p.Met2269Thr
NM_001999.4:c.6959T>C MANE Select NP_001990.2:p.Met2320Thr