Canonical Allele Identifier: CA127043755
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs143248631
gnomAD v4: 5-128301357-G-T
MyVariant Identifiers: chr5:g.127637049G>T (hg19) chr5:g.128301357G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301357G>T , CM000667.2:g.128301357G>T GRCh38
NC_000005.9:g.127637049G>T , CM000667.1:g.127637049G>T GRCh37
NC_000005.8:g.127664948G>T NCBI36
NG_008750.1:g.241687C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2830+25C>A
ENST00000703785.1:n.2749+25C>A
ENST00000262464.9:c.6046+25C>A MANE Select ENSP00000262464.4:n.6046+25C>A
ENST00000262464.8:c.6046+25C>A ENSP00000262464.4:n.6046+25C>A
ENST00000508053.5:c.6046+25C>A ENSP00000424571.1:n.6046+25C>A
ENST00000619499.4:c.6043+25C>A ENSP00000482132.1:n.6043+25C>A
NM_001999.3:c.6046+25C>A NP_001990.2:n.6046+25C>A
XM_017009228.2:c.5893+25C>A XP_016864717.1:n.5893+25C>A
NM_001999.4:c.6046+25C>A MANE Select NP_001990.2:n.6046+25C>A
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