Canonical Allele Identifier: CA2675116729

Gene: FBN2

Linked Data

• gnomAD v4: 5-128332809-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332811_128332812del , CM000667.2:g.128332811_128332812del	GRCh38
NC_000005.9:g.127668503_127668504del , CM000667.1:g.127668503_127668504del	GRCh37
NC_000005.8:g.127696402_127696403del	NCBI36
NG_008750.1:g.210233_210234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+101_1006+102del
ENST00000703785.1:n.1087+101_1087+102del
ENST00000262464.9:c.4222+101_4222+102del MANE Select	ENSP00000262464.4:n.4222+101_4222+102del
ENST00000262464.8:c.4222+101_4222+102del	ENSP00000262464.4:n.4222+101_4222+102del
ENST00000507835.5:c.772+101_772+102del	ENSP00000426839.1:n.772+101_772+102del
ENST00000508053.5:c.4222+101_4222+102del	ENSP00000424571.1:n.4222+101_4222+102del
ENST00000508989.5:c.4123+101_4123+102del	ENSP00000425596.1:n.4123+101_4123+102del
ENST00000619499.4:c.4219+101_4219+102del	ENSP00000482132.1:n.4219+101_4219+102del
NM_001999.3:c.4222+101_4222+102del	NP_001990.2:n.4222+101_4222+102del
XM_017009228.2:c.4069+101_4069+102del	XP_016864717.1:n.4069+101_4069+102del
NM_001999.4:c.4222+101_4222+102del MANE Select	NP_001990.2:n.4222+101_4222+102del