Canonical Allele Identifier: CA1081372849

Gene: FBN2

Linked Data

• dbSNP Id: rs1752561048
• gnomAD v3: 5-128393097-A-ATTGT
• gnomAD v4: 5-128393097-A-ATTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393097_128393098insTTGT , CM000667.2:g.128393097_128393098insTTGT	GRCh38
NC_000005.9:g.127728790_127728791insTTGT , CM000667.1:g.127728790_127728791insTTGT	GRCh37
NC_000005.8:g.127756689_127756690insTTGT	NCBI36
NG_008750.1:g.149945_149946insACAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.1172+37_1172+38insACAA
ENST00000262464.9:c.1465+37_1465+38insACAA MANE Select	ENSP00000262464.4:n.1465+37_1465+38insACA...
ENST00000262464.8:c.1465+37_1465+38insACAA	ENSP00000262464.4:n.1465+37_1465+38insACA...
ENST00000508053.5:c.1465+37_1465+38insACAA	ENSP00000424571.1:n.1465+37_1465+38insACA...
ENST00000508989.5:c.1366+37_1366+38insACAA	ENSP00000425596.1:n.1366+37_1366+38insACA...
ENST00000619499.4:c.1462+37_1462+38insACAA	ENSP00000482132.1:n.1462+37_1462+38insACA...
NM_001999.3:c.1465+37_1465+38insACAA	NP_001990.2:n.1465+37_1465+38insACAA
XM_017009228.2:c.1312+37_1312+38insACAA	XP_016864717.1:n.1312+37_1312+38insACAA
NM_001999.4:c.1465+37_1465+38insACAA MANE Select	NP_001990.2:n.1465+37_1465+38insACAA