Canonical Allele Identifier: CA2578444161

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338211-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338215_128338216del , CM000667.2:g.128338215_128338216del	GRCh38
NC_000005.9:g.127673907_127673908del , CM000667.1:g.127673907_127673908del	GRCh37
NC_000005.8:g.127701806_127701807del	NCBI36
NG_008750.1:g.204831_204832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-91_257-90del
ENST00000703785.1:n.338-91_338-90del
ENST00000262464.9:c.3473-91_3473-90del MANE Select	ENSP00000262464.4:n.3473-91_3473-90del
ENST00000262464.8:c.3473-91_3473-90del	ENSP00000262464.4:n.3473-91_3473-90del
ENST00000507835.5:c.23-91_23-90del	ENSP00000426839.1:n.23-91_23-90del
ENST00000508053.5:c.3473-91_3473-90del	ENSP00000424571.1:n.3473-91_3473-90del
ENST00000508989.5:c.3374-91_3374-90del	ENSP00000425596.1:n.3374-91_3374-90del
ENST00000619499.4:c.3470-91_3470-90del	ENSP00000482132.1:n.3470-91_3470-90del
NM_001999.3:c.3473-91_3473-90del	NP_001990.2:n.3473-91_3473-90del
XM_017009228.2:c.3320-91_3320-90del	XP_016864717.1:n.3320-91_3320-90del
NM_001999.4:c.3473-91_3473-90del MANE Select	NP_001990.2:n.3473-91_3473-90del