Canonical Allele Identifier: CA2675116614
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128330562-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330562C>T , CM000667.2:g.128330562C>T GRCh38
NC_000005.9:g.127666254C>T , CM000667.1:g.127666254C>T GRCh37
NC_000005.8:g.127694153C>T NCBI36
NG_008750.1:g.212482G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1129+11G>A
ENST00000703785.1:n.1210+11G>A
ENST00000262464.9:c.4345+11G>A MANE Select ENSP00000262464.4:n.4345+11G>A
ENST00000262464.8:c.4345+11G>A ENSP00000262464.4:n.4345+11G>A
ENST00000507835.5:c.895+11G>A ENSP00000426839.1:n.895+11G>A
ENST00000508053.5:c.4345+11G>A ENSP00000424571.1:n.4345+11G>A
ENST00000508989.5:c.4246+11G>A ENSP00000425596.1:n.4246+11G>A
ENST00000619499.4:c.4342+11G>A ENSP00000482132.1:n.4342+11G>A
NM_001999.3:c.4345+11G>A NP_001990.2:n.4345+11G>A
XM_017009228.2:c.4192+11G>A XP_016864717.1:n.4192+11G>A
NM_001999.4:c.4345+11G>A MANE Select NP_001990.2:n.4345+11G>A
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