Canonical Allele Identifier: CA2675114488
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128304858-GAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304860_128304861del , CM000667.2:g.128304860_128304861del GRCh38
NC_000005.9:g.127640552_127640553del , CM000667.1:g.127640552_127640553del GRCh37
NC_000005.8:g.127668451_127668452del NCBI36
NG_008750.1:g.238184_238185del

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2584+97_2584+98del
ENST00000703785.1:n.2503+97_2503+98del
ENST00000262464.9:c.5800+97_5800+98del MANE Select ENSP00000262464.4:n.5800+97_5800+98del
ENST00000262464.8:c.5800+97_5800+98del ENSP00000262464.4:n.5800+97_5800+98del
ENST00000508053.5:c.5800+97_5800+98del ENSP00000424571.1:n.5800+97_5800+98del
ENST00000619499.4:c.5797+97_5797+98del ENSP00000482132.1:n.5797+97_5797+98del
NM_001999.3:c.5800+97_5800+98del NP_001990.2:n.5800+97_5800+98del
XM_017009228.2:c.5647+97_5647+98del XP_016864717.1:n.5647+97_5647+98del
NM_001999.4:c.5800+97_5800+98del MANE Select NP_001990.2:n.5800+97_5800+98del
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