Canonical Allele Identifier: CA803633446
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1482996957
gnomAD v4: 5-128330755-A-AT
MyVariant Identifiers: chr5:g.127666447_127666448insT (hg19) chr5:g.128330755_128330756insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330757dup , CM000667.2:g.128330757dup GRCh38
NC_000005.9:g.127666449dup , CM000667.1:g.127666449dup GRCh37
NC_000005.8:g.127694348dup NCBI36
NG_008750.1:g.212288dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1007-61dup
ENST00000703785.1:n.1088-61dup
ENST00000262464.9:c.4223-61dup MANE Select ENSP00000262464.4:n.4223-61dup
ENST00000262464.8:c.4223-61dup ENSP00000262464.4:n.4223-61dup
ENST00000507835.5:c.773-61dup ENSP00000426839.1:n.773-61dup
ENST00000508053.5:c.4223-61dup ENSP00000424571.1:n.4223-61dup
ENST00000508989.5:c.4124-61dup ENSP00000425596.1:n.4124-61dup
ENST00000619499.4:c.4220-61dup ENSP00000482132.1:n.4220-61dup
NM_001999.3:c.4223-61dup NP_001990.2:n.4223-61dup
XM_017009228.2:c.4070-61dup XP_016864717.1:n.4070-61dup
NM_001999.4:c.4223-61dup MANE Select NP_001990.2:n.4223-61dup
Search 100 bp 5'
Search 100 bp 3'