Canonical Allele Identifier: CA360767539
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128357391-T-C
COSMIC: COSM1310495 COSM1310496
MyVariant Identifiers: chr5:g.127693083T>C (hg19) chr5:g.128357391T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357391T>C , CM000667.2:g.128357391T>C GRCh38
NC_000005.9:g.127693083T>C , CM000667.1:g.127693083T>C GRCh37
NC_000005.8:g.127720982T>C NCBI36
NG_008750.1:g.185653A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2559A>G MANE Select ENSP00000262464.4:p.Ile853Met
ENST00000262464.8:c.2559A>G ENSP00000262464.4:p.Ile853Met
ENST00000508053.5:c.2559A>G ENSP00000424571.1:p.Ile853Met
ENST00000508989.5:c.2460A>G ENSP00000425596.1:p.Ile820Met
ENST00000619499.4:c.2556A>G ENSP00000482132.1:p.Ile852Met
NM_001999.3:c.2559A>G NP_001990.2:p.Ile853Met
XM_017009228.2:c.2406A>G XP_016864717.1:p.Ile802Met
NM_001999.4:c.2559A>G MANE Select NP_001990.2:p.Ile853Met
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