Canonical Allele Identifier: CA1081372847

Gene: FBN2

Linked Data

• dbSNP Id: rs1752560958
• gnomAD v3: 5-128393095-G-GA
• gnomAD v4: 5-128393095-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393095_128393096insA , CM000667.2:g.128393095_128393096insA	GRCh38
NC_000005.9:g.127728788_127728789insA , CM000667.1:g.127728788_127728789insA	GRCh37
NC_000005.8:g.127756687_127756688insA	NCBI36
NG_008750.1:g.149947_149948insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.1172+39_1172+40insT
ENST00000262464.9:c.1465+39_1465+40insT MANE Select	ENSP00000262464.4:n.1465+39_1465+40insT
ENST00000262464.8:c.1465+39_1465+40insT	ENSP00000262464.4:n.1465+39_1465+40insT
ENST00000508053.5:c.1465+39_1465+40insT	ENSP00000424571.1:n.1465+39_1465+40insT
ENST00000508989.5:c.1366+39_1366+40insT	ENSP00000425596.1:n.1366+39_1366+40insT
ENST00000619499.4:c.1462+39_1462+40insT	ENSP00000482132.1:n.1462+39_1462+40insT
NM_001999.3:c.1465+39_1465+40insT	NP_001990.2:n.1465+39_1465+40insT
XM_017009228.2:c.1312+39_1312+40insT	XP_016864717.1:n.1312+39_1312+40insT
NM_001999.4:c.1465+39_1465+40insT MANE Select	NP_001990.2:n.1465+39_1465+40insT