Canonical Allele Identifier: CA323445
Community Standard Title: NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128290843T>C , CM000667.2:g.128290843T>C GRCh38
NC_000005.9:g.127626535T>C , CM000667.1:g.127626535T>C GRCh37
NC_000005.8:g.127654434T>C NCBI36
NG_008750.1:g.252201A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001999.4:c.6334A>G MANE Select NP_001990.2:p.Lys2112Glu
ENST00000262464.9:c.6334A>G MANE Select ENSP00000262464.4:p.Lys2112Glu
NM_001999.3:c.6334A>G NP_001990.2:p.Lys2112Glu
ENST00000262464.8:c.6334A>G ENSP00000262464.4:p.Lys2112Glu
ENST00000508053.5:c.6334A>G ENSP00000424571.1:p.Lys2112Glu
ENST00000619499.4:c.6331A>G ENSP00000482132.1:p.Lys2111Glu
ENST00000703783.1:n.3118A>G
ENST00000703785.1:n.3037A>G
XM_017009228.2:c.6181A>G XP_016864717.1:p.Lys2061Glu
Search 100 bp 5'
Search 100 bp 3'