Canonical Allele Identifier: CA360759609
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338121G>T , CM000667.2:g.128338121G>T GRCh38
NC_000005.9:g.127673813G>T , CM000667.1:g.127673813G>T GRCh37
NC_000005.8:g.127701712G>T NCBI36
NG_008750.1:g.204923C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.258C>A
ENST00000703785.1:n.339C>A
ENST00000262464.9:c.3474C>A MANE Select ENSP00000262464.4:p.Asp1158Glu
ENST00000262464.8:c.3474C>A ENSP00000262464.4:p.Asp1158Glu
ENST00000507835.5:c.24C>A ENSP00000426839.1:p.Asp8Glu
ENST00000508053.5:c.3474C>A ENSP00000424571.1:p.Asp1158Glu
ENST00000508989.5:c.3375C>A ENSP00000425596.1:p.Asp1125Glu
ENST00000619499.4:c.3471C>A ENSP00000482132.1:p.Asp1157Glu
NM_001999.3:c.3474C>A NP_001990.2:p.Asp1158Glu
XM_017009228.2:c.3321C>A XP_016864717.1:p.Asp1107Glu
NM_001999.4:c.3474C>A MANE Select NP_001990.2:p.Asp1158Glu