Canonical Allele Identifier: CA562709590

Gene: FBN2

Linked Data

• dbSNP Id: rs1447643325
• gnomAD v2: 5-127640369-C-CAGAGGCTTGG
• gnomAD v3: 5-128304677-C-CAGAGGCTTGG
• gnomAD v4: 5-128304677-C-CAGAGGCTTGG
• MyVariant Identifiers: chr5:g.127640369_127640370insAGAGGCTTGG (hg19) ; chr5:g.128304677_128304678insAGAGGCTTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304677_128304678insAGAGGCTTGG , CM000667.2:g.128304677_128304678insAGAGGCTTGG	GRCh38
NC_000005.9:g.127640369_127640370insAGAGGCTTGG , CM000667.1:g.127640369_127640370insAGAGGCTTGG	GRCh37
NC_000005.8:g.127668268_127668269insAGAGGCTTGG	NCBI36
NG_008750.1:g.238366_238367insCCAAGCCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+279_2584+280insCCAAGCCTCT
ENST00000703785.1:n.2503+279_2503+280insCCAAGCCTCT
ENST00000262464.9:c.5800+279_5800+280insCCAAGCCTCT MANE Select	ENSP00000262464.4:n.5800+279_5800+280insCCAAGCCTCT
ENST00000262464.8:c.5800+279_5800+280insCCAAGCCTCT	ENSP00000262464.4:n.5800+279_5800+280insCCAAGCCTCT
ENST00000508053.5:c.5800+279_5800+280insCCAAGCCTCT	ENSP00000424571.1:n.5800+279_5800+280insCCAAGCCTCT
ENST00000619499.4:c.5797+279_5797+280insCCAAGCCTCT	ENSP00000482132.1:n.5797+279_5797+280insCCAAGCCTCT
NM_001999.3:c.5800+279_5800+280insCCAAGCCTCT	NP_001990.2:n.5800+279_5800+280insCCAAGCCTCT
XM_017009228.2:c.5647+279_5647+280insCCAAGCCTCT	XP_016864717.1:n.5647+279_5647+280insCCAAGCCTCT
NM_001999.4:c.5800+279_5800+280insCCAAGCCTCT MANE Select	NP_001990.2:n.5800+279_5800+280insCCAAGCCTCT