Canonical Allele Identifier: CA2675114496
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128304881-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304881T>G , CM000667.2:g.128304881T>G GRCh38
NC_000005.9:g.127640573T>G , CM000667.1:g.127640573T>G GRCh37
NC_000005.8:g.127668472T>G NCBI36
NG_008750.1:g.238163A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2584+76A>C
ENST00000703785.1:n.2503+76A>C
ENST00000262464.9:c.5800+76A>C MANE Select ENSP00000262464.4:n.5800+76A>C
ENST00000262464.8:c.5800+76A>C ENSP00000262464.4:n.5800+76A>C
ENST00000508053.5:c.5800+76A>C ENSP00000424571.1:n.5800+76A>C
ENST00000619499.4:c.5797+76A>C ENSP00000482132.1:n.5797+76A>C
NM_001999.3:c.5800+76A>C NP_001990.2:n.5800+76A>C
XM_017009228.2:c.5647+76A>C XP_016864717.1:n.5647+76A>C
NM_001999.4:c.5800+76A>C MANE Select NP_001990.2:n.5800+76A>C
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