Canonical Allele Identifier: CA126982942
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs575673042
gnomAD v2: 5-127640569-C-T
gnomAD v3: 5-128304877-C-T
gnomAD v4: 5-128304877-C-T
MyVariant Identifiers: chr5:g.127640569C>T (hg19) chr5:g.128304877C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304877C>T , CM000667.2:g.128304877C>T GRCh38
NC_000005.9:g.127640569C>T , CM000667.1:g.127640569C>T GRCh37
NC_000005.8:g.127668468C>T NCBI36
NG_008750.1:g.238167G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2584+80G>A
ENST00000703785.1:n.2503+80G>A
ENST00000262464.9:c.5800+80G>A MANE Select ENSP00000262464.4:n.5800+80G>A
ENST00000262464.8:c.5800+80G>A ENSP00000262464.4:n.5800+80G>A
ENST00000508053.5:c.5800+80G>A ENSP00000424571.1:n.5800+80G>A
ENST00000619499.4:c.5797+80G>A ENSP00000482132.1:n.5797+80G>A
NM_001999.3:c.5800+80G>A NP_001990.2:n.5800+80G>A
XM_017009228.2:c.5647+80G>A XP_016864717.1:n.5647+80G>A
NM_001999.4:c.5800+80G>A MANE Select NP_001990.2:n.5800+80G>A
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