Canonical Allele Identifier: CA2768335852
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335407G>C , CM000667.2:g.128335407G>C GRCh38
NC_000005.9:g.127671099G>C , CM000667.1:g.127671099G>C GRCh37
NC_000005.8:g.127698998G>C NCBI36
NG_008750.1:g.207637C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.631+48C>G
ENST00000703785.1:n.712+48C>G
ENST00000262464.9:c.3847+48C>G MANE Select ENSP00000262464.4:n.3847+48C>G
ENST00000262464.8:c.3847+48C>G ENSP00000262464.4:n.3847+48C>G
ENST00000507835.5:c.397+48C>G ENSP00000426839.1:n.397+48C>G
ENST00000508053.5:c.3847+48C>G ENSP00000424571.1:n.3847+48C>G
ENST00000508989.5:c.3748+48C>G ENSP00000425596.1:n.3748+48C>G
ENST00000619499.4:c.3844+48C>G ENSP00000482132.1:n.3844+48C>G
NM_001999.3:c.3847+48C>G NP_001990.2:n.3847+48C>G
XM_017009228.2:c.3694+48C>G XP_016864717.1:n.3694+48C>G
NM_001999.4:c.3847+48C>G MANE Select NP_001990.2:n.3847+48C>G
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