Canonical Allele Identifier: CA360757887
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335453A>G , CM000667.2:g.128335453A>G GRCh38
NC_000005.9:g.127671145A>G , CM000667.1:g.127671145A>G GRCh37
NC_000005.8:g.127699044A>G NCBI36
NG_008750.1:g.207591T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.631+2T>C
ENST00000703785.1:n.712+2T>C
ENST00000262464.9:c.3847+2T>C MANE Select ENSP00000262464.4:n.3847+2T>C
ENST00000262464.8:c.3847+2T>C ENSP00000262464.4:n.3847+2T>C
ENST00000507835.5:c.397+2T>C ENSP00000426839.1:n.397+2T>C
ENST00000508053.5:c.3847+2T>C ENSP00000424571.1:n.3847+2T>C
ENST00000508989.5:c.3748+2T>C ENSP00000425596.1:n.3748+2T>C
ENST00000619499.4:c.3844+2T>C ENSP00000482132.1:n.3844+2T>C
NM_001999.3:c.3847+2T>C NP_001990.2:n.3847+2T>C
XM_017009228.2:c.3694+2T>C XP_016864717.1:n.3694+2T>C
NM_001999.4:c.3847+2T>C MANE Select NP_001990.2:n.3847+2T>C