Canonical Allele Identifier: CA2675117557

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338208-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338211_128338212del , CM000667.2:g.128338211_128338212del	GRCh38
NC_000005.9:g.127673903_127673904del , CM000667.1:g.127673903_127673904del	GRCh37
NC_000005.8:g.127701802_127701803del	NCBI36
NG_008750.1:g.204834_204835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-88_257-87del
ENST00000703785.1:n.338-88_338-87del
ENST00000262464.9:c.3473-88_3473-87del MANE Select	ENSP00000262464.4:n.3473-88_3473-87del
ENST00000262464.8:c.3473-88_3473-87del	ENSP00000262464.4:n.3473-88_3473-87del
ENST00000507835.5:c.23-88_23-87del	ENSP00000426839.1:n.23-88_23-87del
ENST00000508053.5:c.3473-88_3473-87del	ENSP00000424571.1:n.3473-88_3473-87del
ENST00000508989.5:c.3374-88_3374-87del	ENSP00000425596.1:n.3374-88_3374-87del
ENST00000619499.4:c.3470-88_3470-87del	ENSP00000482132.1:n.3470-88_3470-87del
NM_001999.3:c.3473-88_3473-87del	NP_001990.2:n.3473-88_3473-87del
XM_017009228.2:c.3320-88_3320-87del	XP_016864717.1:n.3320-88_3320-87del
NM_001999.4:c.3473-88_3473-87del MANE Select	NP_001990.2:n.3473-88_3473-87del