Canonical Allele Identifier: CA1581255138

Gene: FBN2

Linked Data

• dbSNP Id: rs1749811659

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304473_128304474del , CM000667.2:g.128304473_128304474del	GRCh38
NC_000005.9:g.127640165_127640166del , CM000667.1:g.127640165_127640166del	GRCh37
NC_000005.8:g.127668064_127668065del	NCBI36
NG_008750.1:g.238573_238574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+486_2584+487del
ENST00000703785.1:n.2503+486_2503+487del
ENST00000262464.9:c.5800+486_5800+487del MANE Select	ENSP00000262464.4:n.5800+486_5800+487del
ENST00000262464.8:c.5800+486_5800+487del	ENSP00000262464.4:n.5800+486_5800+487del
ENST00000508053.5:c.5800+486_5800+487del	ENSP00000424571.1:n.5800+486_5800+487del
ENST00000619499.4:c.5797+486_5797+487del	ENSP00000482132.1:n.5797+486_5797+487del
NM_001999.3:c.5800+486_5800+487del	NP_001990.2:n.5800+486_5800+487del
XM_017009228.2:c.5647+486_5647+487del	XP_016864717.1:n.5647+486_5647+487del
NM_001999.4:c.5800+486_5800+487del MANE Select	NP_001990.2:n.5800+486_5800+487del