Canonical Allele Identifier: CA2675116634

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330738-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330738T>A , CM000667.2:g.128330738T>A	GRCh38
NC_000005.9:g.127666430T>A , CM000667.1:g.127666430T>A	GRCh37
NC_000005.8:g.127694329T>A	NCBI36
NG_008750.1:g.212306A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-43A>T
ENST00000703785.1:n.1088-43A>T
ENST00000262464.9:c.4223-43A>T MANE Select	ENSP00000262464.4:n.4223-43A>T
ENST00000262464.8:c.4223-43A>T	ENSP00000262464.4:n.4223-43A>T
ENST00000507835.5:c.773-43A>T	ENSP00000426839.1:n.773-43A>T
ENST00000508053.5:c.4223-43A>T	ENSP00000424571.1:n.4223-43A>T
ENST00000508989.5:c.4124-43A>T	ENSP00000425596.1:n.4124-43A>T
ENST00000619499.4:c.4220-43A>T	ENSP00000482132.1:n.4220-43A>T
NM_001999.3:c.4223-43A>T	NP_001990.2:n.4223-43A>T
XM_017009228.2:c.4070-43A>T	XP_016864717.1:n.4070-43A>T
NM_001999.4:c.4223-43A>T MANE Select	NP_001990.2:n.4223-43A>T