Canonical Allele Identifier: CA16611716
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411809
ClinVar RCV Id: RCV000459072
dbSNP Id: rs1060503498
MyVariant Identifiers: chr5:g.127668603C>T (hg19) chr5:g.128332911C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332911C>T , CM000667.2:g.128332911C>T GRCh38
NC_000005.9:g.127668603C>T , CM000667.1:g.127668603C>T GRCh37
NC_000005.8:g.127696502C>T NCBI36
NG_008750.1:g.210133G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.1006+1G>A
ENST00000703785.1:n.1087+1G>A
ENST00000262464.9:c.4222+1G>A MANE Select ENSP00000262464.4:n.4222+1G>A
ENST00000262464.8:c.4222+1G>A ENSP00000262464.4:n.4222+1G>A
ENST00000507835.5:c.772+1G>A ENSP00000426839.1:n.772+1G>A
ENST00000508053.5:c.4222+1G>A ENSP00000424571.1:n.4222+1G>A
ENST00000508989.5:c.4123+1G>A ENSP00000425596.1:n.4123+1G>A
ENST00000619499.4:c.4219+1G>A ENSP00000482132.1:n.4219+1G>A
NM_001999.3:c.4222+1G>A NP_001990.2:n.4222+1G>A
XM_017009228.2:c.4069+1G>A XP_016864717.1:n.4069+1G>A
NM_001999.4:c.4222+1G>A MANE Select NP_001990.2:n.4222+1G>A
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