Canonical Allele Identifier: CA2578396754
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395036T>A , CM000667.2:g.128395036T>A GRCh38
NC_000005.9:g.127730729T>A , CM000667.1:g.127730729T>A GRCh37
NC_000005.8:g.127758628T>A NCBI36
NG_008750.1:g.148007A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703787.1:n.938+86A>T
ENST00000262464.9:c.1231+86A>T MANE Select ENSP00000262464.4:n.1231+86A>T
ENST00000262464.8:c.1231+86A>T ENSP00000262464.4:n.1231+86A>T
ENST00000508053.5:c.1231+86A>T ENSP00000424571.1:n.1231+86A>T
ENST00000508989.5:c.1132+86A>T ENSP00000425596.1:n.1132+86A>T
ENST00000619499.4:c.1228+86A>T ENSP00000482132.1:n.1228+86A>T
NM_001999.3:c.1231+86A>T NP_001990.2:n.1231+86A>T
XM_017009228.2:c.1079-1668A>T XP_016864717.1:n.1079-1668A>T
NM_001999.4:c.1231+86A>T MANE Select NP_001990.2:n.1231+86A>T
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