Canonical Allele Identifier: CA360757857
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335286T>G , CM000667.2:g.128335286T>G GRCh38
NC_000005.9:g.127670978T>G , CM000667.1:g.127670978T>G GRCh37
NC_000005.8:g.127698877T>G NCBI36
NG_008750.1:g.207758A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.641A>C
ENST00000703785.1:n.722A>C
ENST00000262464.9:c.3857A>C MANE Select ENSP00000262464.4:p.Glu1286Ala
ENST00000262464.8:c.3857A>C ENSP00000262464.4:p.Glu1286Ala
ENST00000507835.5:c.407A>C ENSP00000426839.1:p.Glu136Ala
ENST00000508053.5:c.3857A>C ENSP00000424571.1:p.Glu1286Ala
ENST00000508989.5:c.3758A>C ENSP00000425596.1:p.Glu1253Ala
ENST00000619499.4:c.3854A>C ENSP00000482132.1:p.Glu1285Ala
NM_001999.3:c.3857A>C NP_001990.2:p.Glu1286Ala
XM_017009228.2:c.3704A>C XP_016864717.1:p.Glu1235Ala
NM_001999.4:c.3857A>C MANE Select NP_001990.2:p.Glu1286Ala