Canonical Allele Identifier: CA2675114466

Gene: FBN2

Linked Data

• gnomAD v4: 5-128304816-TTAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304819_128304822del , CM000667.2:g.128304819_128304822del	GRCh38
NC_000005.9:g.127640511_127640514del , CM000667.1:g.127640511_127640514del	GRCh37
NC_000005.8:g.127668410_127668413del	NCBI36
NG_008750.1:g.238224_238227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+137_2584+140del
ENST00000703785.1:n.2503+137_2503+140del
ENST00000262464.9:c.5800+137_5800+140del MANE Select	ENSP00000262464.4:n.5800+137_5800+140del
ENST00000262464.8:c.5800+137_5800+140del	ENSP00000262464.4:n.5800+137_5800+140del
ENST00000508053.5:c.5800+137_5800+140del	ENSP00000424571.1:n.5800+137_5800+140del
ENST00000619499.4:c.5797+137_5797+140del	ENSP00000482132.1:n.5797+137_5797+140del
NM_001999.3:c.5800+137_5800+140del	NP_001990.2:n.5800+137_5800+140del
XM_017009228.2:c.5647+137_5647+140del	XP_016864717.1:n.5647+137_5647+140del
NM_001999.4:c.5800+137_5800+140del MANE Select	NP_001990.2:n.5800+137_5800+140del