Canonical Allele Identifier: CA360755442
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1205541313

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128333024C>G , CM000667.2:g.128333024C>G GRCh38
NC_000005.9:g.127668716C>G , CM000667.1:g.127668716C>G GRCh37
NC_000005.8:g.127696615C>G NCBI36
NG_008750.1:g.210020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.894G>C
ENST00000703785.1:n.975G>C
ENST00000262464.9:c.4110G>C MANE Select ENSP00000262464.4:p.Glu1370Asp
ENST00000262464.8:c.4110G>C ENSP00000262464.4:p.Glu1370Asp
ENST00000507835.5:c.660G>C ENSP00000426839.1:p.Glu220Asp
ENST00000508053.5:c.4110G>C ENSP00000424571.1:p.Glu1370Asp
ENST00000508989.5:c.4011G>C ENSP00000425596.1:p.Glu1337Asp
ENST00000619499.4:c.4107G>C ENSP00000482132.1:p.Glu1369Asp
NM_001999.3:c.4110G>C NP_001990.2:p.Glu1370Asp
XM_017009228.2:c.3957G>C XP_016864717.1:p.Glu1319Asp
NM_001999.4:c.4110G>C MANE Select NP_001990.2:p.Glu1370Asp