Canonical Allele Identifier: CA127026762
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1198288
ClinVar RCV Id: RCV001562391
dbSNP Id: rs114126523
gnomAD v2: 5-127692833-G-T
gnomAD v3: 5-128357141-G-T
gnomAD v4: 5-128357141-G-T
MyVariant Identifiers: chr5:g.127692833G>T (hg19) chr5:g.128357141G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357141G>T , CM000667.2:g.128357141G>T GRCh38
NC_000005.9:g.127692833G>T , CM000667.1:g.127692833G>T GRCh37
NC_000005.8:g.127720732G>T NCBI36
NG_008750.1:g.185903C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2674+135C>A MANE Select ENSP00000262464.4:n.2674+135C>A
ENST00000262464.8:c.2674+135C>A ENSP00000262464.4:n.2674+135C>A
ENST00000508053.5:c.2674+135C>A ENSP00000424571.1:n.2674+135C>A
ENST00000508989.5:c.2575+135C>A ENSP00000425596.1:n.2575+135C>A
ENST00000619499.4:c.2671+135C>A ENSP00000482132.1:n.2671+135C>A
NM_001999.3:c.2674+135C>A NP_001990.2:n.2674+135C>A
XM_017009228.2:c.2521+135C>A XP_016864717.1:n.2521+135C>A
NM_001999.4:c.2674+135C>A MANE Select NP_001990.2:n.2674+135C>A
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