Canonical Allele Identifier: CA360757899
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335458C>T , CM000667.2:g.128335458C>T GRCh38
NC_000005.9:g.127671150C>T , CM000667.1:g.127671150C>T GRCh37
NC_000005.8:g.127699049C>T NCBI36
NG_008750.1:g.207586G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.628G>A
ENST00000703785.1:n.709G>A
ENST00000262464.9:c.3844G>A MANE Select ENSP00000262464.4:p.Ala1282Thr
ENST00000262464.8:c.3844G>A ENSP00000262464.4:p.Ala1282Thr
ENST00000507835.5:c.394G>A ENSP00000426839.1:p.Ala132Thr
ENST00000508053.5:c.3844G>A ENSP00000424571.1:p.Ala1282Thr
ENST00000508989.5:c.3745G>A ENSP00000425596.1:p.Ala1249Thr
ENST00000619499.4:c.3841G>A ENSP00000482132.1:p.Ala1281Thr
NM_001999.3:c.3844G>A NP_001990.2:p.Ala1282Thr
XM_017009228.2:c.3691G>A XP_016864717.1:p.Ala1231Thr
NM_001999.4:c.3844G>A MANE Select NP_001990.2:p.Ala1282Thr