Canonical Allele Identifier: CA917578835

Gene: FBN2

Linked Data

• dbSNP Id: rs1581202488

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304584_128304590del , CM000667.2:g.128304584_128304590del	GRCh38
NC_000005.9:g.127640276_127640282del , CM000667.1:g.127640276_127640282del	GRCh37
NC_000005.8:g.127668175_127668181del	NCBI36
NG_008750.1:g.238455_238461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+368_2584+374del
ENST00000703785.1:n.2503+368_2503+374del
ENST00000262464.9:c.5800+368_5800+374del MANE Select	ENSP00000262464.4:n.5800+368_5800+374del
ENST00000262464.8:c.5800+368_5800+374del	ENSP00000262464.4:n.5800+368_5800+374del
ENST00000508053.5:c.5800+368_5800+374del	ENSP00000424571.1:n.5800+368_5800+374del
ENST00000619499.4:c.5797+368_5797+374del	ENSP00000482132.1:n.5797+368_5797+374del
NM_001999.3:c.5800+368_5800+374del	NP_001990.2:n.5800+368_5800+374del
XM_017009228.2:c.5647+368_5647+374del	XP_016864717.1:n.5647+368_5647+374del
NM_001999.4:c.5800+368_5800+374del MANE Select	NP_001990.2:n.5800+368_5800+374del