Canonical Allele Identifier: CA2709780054
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1751110671
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344331G>A , CM000667.2:g.128344331G>A GRCh38
NC_000005.9:g.127680023G>A , CM000667.1:g.127680023G>A GRCh37
NC_000005.8:g.127707922G>A NCBI36
NG_008750.1:g.198713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3343+54C>T MANE Select ENSP00000262464.4:n.3343+54C>T
ENST00000262464.8:c.3343+54C>T ENSP00000262464.4:n.3343+54C>T
ENST00000508053.5:c.3343+54C>T ENSP00000424571.1:n.3343+54C>T
ENST00000508989.5:c.3244+54C>T ENSP00000425596.1:n.3244+54C>T
ENST00000619499.4:c.3340+54C>T ENSP00000482132.1:n.3340+54C>T
NM_001999.3:c.3343+54C>T NP_001990.2:n.3343+54C>T
XM_017009228.2:c.3190+54C>T XP_016864717.1:n.3190+54C>T
NM_001999.4:c.3343+54C>T MANE Select NP_001990.2:n.3343+54C>T
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