Canonical Allele Identifier: CA360753818
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330581G>A , CM000667.2:g.128330581G>A GRCh38
NC_000005.9:g.127666273G>A , CM000667.1:g.127666273G>A GRCh37
NC_000005.8:g.127694172G>A NCBI36
NG_008750.1:g.212463C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1121C>T
ENST00000703785.1:n.1202C>T
ENST00000262464.9:c.4337C>T MANE Select ENSP00000262464.4:p.Thr1446Ile
ENST00000262464.8:c.4337C>T ENSP00000262464.4:p.Thr1446Ile
ENST00000507835.5:c.887C>T ENSP00000426839.1:p.Thr296Ile
ENST00000508053.5:c.4337C>T ENSP00000424571.1:p.Thr1446Ile
ENST00000508989.5:c.4238C>T ENSP00000425596.1:p.Thr1413Ile
ENST00000619499.4:c.4334C>T ENSP00000482132.1:p.Thr1445Ile
NM_001999.3:c.4337C>T NP_001990.2:p.Thr1446Ile
XM_017009228.2:c.4184C>T XP_016864717.1:p.Thr1395Ile
NM_001999.4:c.4337C>T MANE Select NP_001990.2:p.Thr1446Ile