Canonical Allele Identifier: CA2697546436
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2764094
ClinVar RCV Id: RCV003526452
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395103C>T , CM000667.2:g.128395103C>T GRCh38
NC_000005.9:g.127730796C>T , CM000667.1:g.127730796C>T GRCh37
NC_000005.8:g.127758695C>T NCBI36
NG_008750.1:g.147940G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+19G>A
ENST00000262464.9:c.1231+19G>A MANE Select ENSP00000262464.4:n.1231+19G>A
ENST00000262464.8:c.1231+19G>A ENSP00000262464.4:n.1231+19G>A
ENST00000508053.5:c.1231+19G>A ENSP00000424571.1:n.1231+19G>A
ENST00000508989.5:c.1132+19G>A ENSP00000425596.1:n.1132+19G>A
ENST00000619499.4:c.1228+19G>A ENSP00000482132.1:n.1228+19G>A
NM_001999.3:c.1231+19G>A NP_001990.2:n.1231+19G>A
XM_017009228.2:c.1079-1735G>A XP_016864717.1:n.1079-1735G>A
NM_001999.4:c.1231+19G>A MANE Select NP_001990.2:n.1231+19G>A
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