Canonical Allele Identifier: CA360755306
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128333006A>C , CM000667.2:g.128333006A>C GRCh38
NC_000005.9:g.127668698A>C , CM000667.1:g.127668698A>C GRCh37
NC_000005.8:g.127696597A>C NCBI36
NG_008750.1:g.210038T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.912T>G
ENST00000703785.1:n.993T>G
ENST00000262464.9:c.4128T>G MANE Select ENSP00000262464.4:p.His1376Gln
ENST00000262464.8:c.4128T>G ENSP00000262464.4:p.His1376Gln
ENST00000507835.5:c.678T>G ENSP00000426839.1:p.His226Gln
ENST00000508053.5:c.4128T>G ENSP00000424571.1:p.His1376Gln
ENST00000508989.5:c.4029T>G ENSP00000425596.1:p.His1343Gln
ENST00000619499.4:c.4125T>G ENSP00000482132.1:p.His1375Gln
NM_001999.3:c.4128T>G NP_001990.2:p.His1376Gln
XM_017009228.2:c.3975T>G XP_016864717.1:p.His1325Gln
NM_001999.4:c.4128T>G MANE Select NP_001990.2:p.His1376Gln