Canonical Allele Identifier: CA2675116668
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330807G>T , CM000667.2:g.128330807G>T GRCh38
NC_000005.9:g.127666499G>T , CM000667.1:g.127666499G>T GRCh37
NC_000005.8:g.127694398G>T NCBI36
NG_008750.1:g.212237C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1007-112C>A
ENST00000703785.1:n.1088-112C>A
ENST00000262464.9:c.4223-112C>A MANE Select ENSP00000262464.4:n.4223-112C>A
ENST00000262464.8:c.4223-112C>A ENSP00000262464.4:n.4223-112C>A
ENST00000507835.5:c.773-112C>A ENSP00000426839.1:n.773-112C>A
ENST00000508053.5:c.4223-112C>A ENSP00000424571.1:n.4223-112C>A
ENST00000508989.5:c.4124-112C>A ENSP00000425596.1:n.4124-112C>A
ENST00000619499.4:c.4220-112C>A ENSP00000482132.1:n.4220-112C>A
NM_001999.3:c.4223-112C>A NP_001990.2:n.4223-112C>A
XM_017009228.2:c.4070-112C>A XP_016864717.1:n.4070-112C>A
NM_001999.4:c.4223-112C>A MANE Select NP_001990.2:n.4223-112C>A