Canonical Allele Identifier: CA126982653

Gene: FBN2

Linked Data

• dbSNP Id: rs796478512
• gnomAD v2: 5-127640212-GTATGTGCA-G
• gnomAD v3: 5-128304520-GTATGTGCA-G
• gnomAD v4: 5-128304520-GTATGTGCA-G
• MyVariant Identifiers: chr5:g.127640213_127640220del (hg19) ; chr5:g.128304521_128304528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304527_128304534del , CM000667.2:g.128304527_128304534del	GRCh38
NC_000005.9:g.127640219_127640226del , CM000667.1:g.127640219_127640226del	GRCh37
NC_000005.8:g.127668118_127668125del	NCBI36
NG_008750.1:g.238516_238523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+429_2584+436del
ENST00000703785.1:n.2503+429_2503+436del
ENST00000262464.9:c.5800+429_5800+436del MANE Select	ENSP00000262464.4:n.5800+429_5800+436del
ENST00000262464.8:c.5800+429_5800+436del	ENSP00000262464.4:n.5800+429_5800+436del
ENST00000508053.5:c.5800+429_5800+436del	ENSP00000424571.1:n.5800+429_5800+436del
ENST00000619499.4:c.5797+429_5797+436del	ENSP00000482132.1:n.5797+429_5797+436del
NM_001999.3:c.5800+429_5800+436del	NP_001990.2:n.5800+429_5800+436del
XM_017009228.2:c.5647+429_5647+436del	XP_016864717.1:n.5647+429_5647+436del
NM_001999.4:c.5800+429_5800+436del MANE Select	NP_001990.2:n.5800+429_5800+436del