Canonical Allele Identifier: CA1081360347

Gene: FBN2

Linked Data

• dbSNP Id: rs1750899148
• gnomAD v3: 5-128338244-A-AGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG
• gnomAD v4: 5-128338244-A-AGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338244_128338245insGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG , CM000667.2:g.128338244_128338245insGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG	GRCh38
NC_000005.9:g.127673936_127673937insGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG , CM000667.1:g.127673936_127673937insGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG	GRCh37
NC_000005.8:g.127701835_127701836insGCCAGAAGGGCTGCCAGAAAGCTACAGAGAAAGCTCTG	NCBI36
NG_008750.1:g.204799_204800insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-123_257-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC
ENST00000703785.1:n.338-123_338-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC
ENST00000262464.9:c.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC MANE Select	ENSP00000262464.4:n.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTT...
ENST00000262464.8:c.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	ENSP00000262464.4:n.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTT...
ENST00000507835.5:c.23-123_23-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	ENSP00000426839.1:n.23-123_23-122insCAGAGCTTTCTCTGTAGCTTTCTGG...
ENST00000508053.5:c.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	ENSP00000424571.1:n.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTT...
ENST00000508989.5:c.3374-123_3374-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	ENSP00000425596.1:n.3374-123_3374-122insCAGAGCTTTCTCTGTAGCTTT...
ENST00000619499.4:c.3470-123_3470-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	ENSP00000482132.1:n.3470-123_3470-122insCAGAGCTTTCTCTGTAGCTTT...
NM_001999.3:c.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	NP_001990.2:n.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCA...
XM_017009228.2:c.3320-123_3320-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC	XP_016864717.1:n.3320-123_3320-122insCAGAGCTTTCTCTGTAGCTTTCTG...
NM_001999.4:c.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCAGCCCTTCTGGC MANE Select	NP_001990.2:n.3473-123_3473-122insCAGAGCTTTCTCTGTAGCTTTCTGGCA...