Canonical Allele Identifier: CA1581268351

Gene: FBN2

Linked Data

• dbSNP Id: rs1750729767
• gnomAD v4: 5-128332859-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332860del , CM000667.2:g.128332860del	GRCh38
NC_000005.9:g.127668552del , CM000667.1:g.127668552del	GRCh37
NC_000005.8:g.127696451del	NCBI36
NG_008750.1:g.210184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+52del
ENST00000703785.1:n.1087+52del
ENST00000262464.9:c.4222+52del MANE Select	ENSP00000262464.4:n.4222+52del
ENST00000262464.8:c.4222+52del	ENSP00000262464.4:n.4222+52del
ENST00000507835.5:c.772+52del	ENSP00000426839.1:n.772+52del
ENST00000508053.5:c.4222+52del	ENSP00000424571.1:n.4222+52del
ENST00000508989.5:c.4123+52del	ENSP00000425596.1:n.4123+52del
ENST00000619499.4:c.4219+52del	ENSP00000482132.1:n.4219+52del
NM_001999.3:c.4222+52del	NP_001990.2:n.4222+52del
XM_017009228.2:c.4069+52del	XP_016864717.1:n.4069+52del
NM_001999.4:c.4222+52del MANE Select	NP_001990.2:n.4222+52del