Canonical Allele Identifier: CA915203017

Gene: FBN2

Linked Data

• dbSNP Id: rs1561777992
• gnomAD v2: 5-127673823-TAA-T
• gnomAD v4: 5-128338131-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338135_128338136del , CM000667.2:g.128338135_128338136del	GRCh38
NC_000005.9:g.127673827_127673828del , CM000667.1:g.127673827_127673828del	GRCh37
NC_000005.8:g.127701726_127701727del	NCBI36
NG_008750.1:g.204911_204912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-11_257-10del
ENST00000703785.1:n.338-11_338-10del
ENST00000262464.9:c.3473-11_3473-10del MANE Select	ENSP00000262464.4:n.3473-11_3473-10del
ENST00000262464.8:c.3473-11_3473-10del	ENSP00000262464.4:n.3473-11_3473-10del
ENST00000507835.5:c.23-11_23-10del	ENSP00000426839.1:n.23-11_23-10del
ENST00000508053.5:c.3473-11_3473-10del	ENSP00000424571.1:n.3473-11_3473-10del
ENST00000508989.5:c.3374-11_3374-10del	ENSP00000425596.1:n.3374-11_3374-10del
ENST00000619499.4:c.3470-11_3470-10del	ENSP00000482132.1:n.3470-11_3470-10del
NM_001999.3:c.3473-11_3473-10del	NP_001990.2:n.3473-11_3473-10del
XM_017009228.2:c.3320-11_3320-10del	XP_016864717.1:n.3320-11_3320-10del
NM_001999.4:c.3473-11_3473-10del MANE Select	NP_001990.2:n.3473-11_3473-10del