Canonical Allele Identifier: CA1581253275
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1581199601
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300457A>G , CM000667.2:g.128300457A>G GRCh38
NC_000005.9:g.127636149A>G , CM000667.1:g.127636149A>G GRCh37
NC_000005.8:g.127664048A>G NCBI36
NG_008750.1:g.242587T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2950+360T>C
ENST00000703785.1:n.2869+360T>C
ENST00000262464.9:c.6166+360T>C MANE Select ENSP00000262464.4:n.6166+360T>C
ENST00000262464.8:c.6166+360T>C ENSP00000262464.4:n.6166+360T>C
ENST00000508053.5:c.6166+360T>C ENSP00000424571.1:n.6166+360T>C
ENST00000619499.4:c.6163+360T>C ENSP00000482132.1:n.6163+360T>C
NM_001999.3:c.6166+360T>C NP_001990.2:n.6166+360T>C
XM_017009228.2:c.6013+360T>C XP_016864717.1:n.6013+360T>C
NM_001999.4:c.6166+360T>C MANE Select NP_001990.2:n.6166+360T>C
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