Canonical Allele Identifier: CA446306367
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127640686_127640687insTTG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304996_128304998dup , CM000667.2:g.128304996_128304998dup GRCh38
NC_000005.9:g.127640688_127640690dup , CM000667.1:g.127640688_127640690dup GRCh37
NC_000005.8:g.127668587_127668589dup NCBI36
NG_008750.1:g.238047_238049dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2544_2546dup
ENST00000703785.1:n.2463_2465dup
ENST00000262464.9:c.5760_5762dup MANE Select ENSP00000262464.4:p.Asn1921_Gly1922insAsn...
ENST00000262464.8:c.5760_5762dup ENSP00000262464.4:p.Asn1921_Gly1922insAsn...
ENST00000508053.5:c.5760_5762dup ENSP00000424571.1:p.Asn1921_Gly1922insAsn...
ENST00000619499.4:c.5757_5759dup ENSP00000482132.1:p.Asn1920_Gly1921insAsn...
NM_001999.3:c.5760_5762dup NP_001990.2:p.Asn1921_Gly1922insAsn
XM_017009228.2:c.5607_5609dup XP_016864717.1:p.Asn1870_Gly1871insAsn
NM_001999.4:c.5760_5762dup MANE Select NP_001990.2:p.Asn1921_Gly1922insAsn
Search 100 bp 5'
Search 100 bp 3'