Canonical Allele Identifier: CA3395501
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 286775
dbSNP Id: rs376507178

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357401A>G , CM000667.2:g.128357401A>G GRCh38
NC_000005.9:g.127693093A>G , CM000667.1:g.127693093A>G GRCh37
NC_000005.8:g.127720992A>G NCBI36
NG_008750.1:g.185643T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2555-6T>C MANE Select ENSP00000262464.4:n.2555-6T>C
ENST00000262464.8:c.2555-6T>C ENSP00000262464.4:n.2555-6T>C
ENST00000508053.5:c.2555-6T>C ENSP00000424571.1:n.2555-6T>C
ENST00000508989.5:c.2456-6T>C ENSP00000425596.1:n.2456-6T>C
ENST00000619499.4:c.2552-6T>C ENSP00000482132.1:n.2552-6T>C
NM_001999.3:c.2555-6T>C NP_001990.2:n.2555-6T>C
XM_017009228.2:c.2402-6T>C XP_016864717.1:n.2402-6T>C
NM_001999.4:c.2555-6T>C MANE Select NP_001990.2:n.2555-6T>C