Canonical Allele Identifier: CA1081366498
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1751516324
gnomAD v3: 5-128356930-T-C
gnomAD v4: 5-128356930-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128356930T>C , CM000667.2:g.128356930T>C GRCh38
NC_000005.9:g.127692622T>C , CM000667.1:g.127692622T>C GRCh37
NC_000005.8:g.127720521T>C NCBI36
NG_008750.1:g.186114A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2674+346A>G MANE Select ENSP00000262464.4:n.2674+346A>G
ENST00000262464.8:c.2674+346A>G ENSP00000262464.4:n.2674+346A>G
ENST00000508053.5:c.2674+346A>G ENSP00000424571.1:n.2674+346A>G
ENST00000508989.5:c.2575+346A>G ENSP00000425596.1:n.2575+346A>G
ENST00000619499.4:c.2671+346A>G ENSP00000482132.1:n.2671+346A>G
NM_001999.3:c.2674+346A>G NP_001990.2:n.2674+346A>G
XM_017009228.2:c.2521+346A>G XP_016864717.1:n.2521+346A>G
NM_001999.4:c.2674+346A>G MANE Select NP_001990.2:n.2674+346A>G
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