Canonical Allele Identifier: CA360766337
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300859T>A , CM000667.2:g.128300859T>A GRCh38
NC_000005.9:g.127636551T>A , CM000667.1:g.127636551T>A GRCh37
NC_000005.8:g.127664450T>A NCBI36
NG_008750.1:g.242185A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2908A>T
ENST00000703785.1:n.2827A>T
ENST00000262464.9:c.6124A>T MANE Select ENSP00000262464.4:p.Ile2042Phe
ENST00000262464.8:c.6124A>T ENSP00000262464.4:p.Ile2042Phe
ENST00000508053.5:c.6124A>T ENSP00000424571.1:p.Ile2042Phe
ENST00000619499.4:c.6121A>T ENSP00000482132.1:p.Ile2041Phe
NM_001999.3:c.6124A>T NP_001990.2:p.Ile2042Phe
XM_017009228.2:c.5971A>T XP_016864717.1:p.Ile1991Phe
NM_001999.4:c.6124A>T MANE Select NP_001990.2:p.Ile2042Phe