Canonical Allele Identifier: CA1581253502
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300944_128300945delinsGA , CM000667.2:g.128300944_128300945delinsGA GRCh38
NC_000005.9:g.127636636_127636637delinsGA , CM000667.1:g.127636636_127636637delinsGA GRCh37
NC_000005.8:g.127664535_127664536delinsGA NCBI36
NG_008750.1:g.242099_242100delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2831-9_2831-8delinsTC
ENST00000703785.1:n.2750-9_2750-8delinsTC
ENST00000262464.9:c.6047-9_6047-8delinsTC MANE Select ENSP00000262464.4:n.6047-9_6047-8delinsTC
ENST00000262464.8:c.6047-9_6047-8delinsTC ENSP00000262464.4:n.6047-9_6047-8delinsTC
ENST00000508053.5:c.6047-9_6047-8delinsTC ENSP00000424571.1:n.6047-9_6047-8delinsTC
ENST00000619499.4:c.6044-9_6044-8delinsTC ENSP00000482132.1:n.6044-9_6044-8delinsTC
NM_001999.3:c.6047-9_6047-8delinsTC NP_001990.2:n.6047-9_6047-8delinsTC
XM_017009228.2:c.5894-9_5894-8delinsTC XP_016864717.1:n.5894-9_5894-8delinsTC
NM_001999.4:c.6047-9_6047-8delinsTC MANE Select NP_001990.2:n.6047-9_6047-8delinsTC
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