Canonical Allele Identifier: CA803642538
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1207996645
MyVariant Identifiers: chr5:g.127679898A>C (hg19) chr5:g.128344206A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128344206A>C , CM000667.2:g.128344206A>C GRCh38
NC_000005.9:g.127679898A>C , CM000667.1:g.127679898A>C GRCh37
NC_000005.8:g.127707797A>C NCBI36
NG_008750.1:g.198838T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.3343+179T>G MANE Select ENSP00000262464.4:n.3343+179T>G
ENST00000262464.8:c.3343+179T>G ENSP00000262464.4:n.3343+179T>G
ENST00000508053.5:c.3343+179T>G ENSP00000424571.1:n.3343+179T>G
ENST00000508989.5:c.3244+179T>G ENSP00000425596.1:n.3244+179T>G
ENST00000619499.4:c.3340+179T>G ENSP00000482132.1:n.3340+179T>G
NM_001999.3:c.3343+179T>G NP_001990.2:n.3343+179T>G
XM_017009228.2:c.3190+179T>G XP_016864717.1:n.3190+179T>G
NM_001999.4:c.3343+179T>G MANE Select NP_001990.2:n.3343+179T>G
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