Canonical Allele Identifier: CA1581270830

Gene: FBN2

Linked Data

• dbSNP Id: rs1750899017

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338243_128338244insTGTAGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCT , CM000667.2:g.128338243_128338244insTGTAGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCT	GRCh38
NC_000005.9:g.127673935_127673936insTGTAGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCT , CM000667.1:g.127673935_127673936insTGTAGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCT	GRCh37
NC_000005.8:g.127701834_127701835insTGTAGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCT	NCBI36
NG_008750.1:g.204800_204801insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-122_257-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA
ENST00000703785.1:n.338-122_338-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA
ENST00000262464.9:c.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA MANE Select	ENSP00000262464.4:n.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTC...
ENST00000262464.8:c.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	ENSP00000262464.4:n.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTC...
ENST00000507835.5:c.23-122_23-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	ENSP00000426839.1:n.23-122_23-121insAGAGCTTTCTCTGTAGCTTTCTGGC...
ENST00000508053.5:c.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	ENSP00000424571.1:n.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTC...
ENST00000508989.5:c.3374-122_3374-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	ENSP00000425596.1:n.3374-122_3374-121insAGAGCTTTCTCTGTAGCTTTC...
ENST00000619499.4:c.3470-122_3470-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	ENSP00000482132.1:n.3470-122_3470-121insAGAGCTTTCTCTGTAGCTTTC...
NM_001999.3:c.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	NP_001990.2:n.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAG...
XM_017009228.2:c.3320-122_3320-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA	XP_016864717.1:n.3320-122_3320-121insAGAGCTTTCTCTGTAGCTTTCTGG...
NM_001999.4:c.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGCTACA MANE Select	NP_001990.2:n.3473-122_3473-121insAGAGCTTTCTCTGTAGCTTTCTGGCAG...