Canonical Allele Identifier: CA2675116759

Gene: FBN2

Linked Data

• gnomAD v4: 5-128332857-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332860_128332861del , CM000667.2:g.128332860_128332861del	GRCh38
NC_000005.9:g.127668552_127668553del , CM000667.1:g.127668552_127668553del	GRCh37
NC_000005.8:g.127696451_127696452del	NCBI36
NG_008750.1:g.210185_210186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+53_1006+54del
ENST00000703785.1:n.1087+53_1087+54del
ENST00000262464.9:c.4222+53_4222+54del MANE Select	ENSP00000262464.4:n.4222+53_4222+54del
ENST00000262464.8:c.4222+53_4222+54del	ENSP00000262464.4:n.4222+53_4222+54del
ENST00000507835.5:c.772+53_772+54del	ENSP00000426839.1:n.772+53_772+54del
ENST00000508053.5:c.4222+53_4222+54del	ENSP00000424571.1:n.4222+53_4222+54del
ENST00000508989.5:c.4123+53_4123+54del	ENSP00000425596.1:n.4123+53_4123+54del
ENST00000619499.4:c.4219+53_4219+54del	ENSP00000482132.1:n.4219+53_4219+54del
NM_001999.3:c.4222+53_4222+54del	NP_001990.2:n.4222+53_4222+54del
XM_017009228.2:c.4069+53_4069+54del	XP_016864717.1:n.4069+53_4069+54del
NM_001999.4:c.4222+53_4222+54del MANE Select	NP_001990.2:n.4222+53_4222+54del