Canonical Allele Identifier: CA446306387

Gene: FBN2

Linked Data

• gnomAD v4: 5-128305036-C-T
• MyVariant Identifiers: chr5:g.127640728C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305036C>T , CM000667.2:g.128305036C>T	GRCh38
NC_000005.9:g.127640728C>T , CM000667.1:g.127640728C>T	GRCh37
NC_000005.8:g.127668627C>T	NCBI36
NG_008750.1:g.238008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2505G>A
ENST00000703785.1:n.2424G>A
ENST00000262464.9:c.5721G>A MANE Select	ENSP00000262464.4:p.Leu1907=
ENST00000262464.8:c.5721G>A	ENSP00000262464.4:p.Leu1907=
ENST00000508053.5:c.5721G>A	ENSP00000424571.1:p.Leu1907=
ENST00000619499.4:c.5718G>A	ENSP00000482132.1:p.Leu1906=
NM_001999.3:c.5721G>A	NP_001990.2:p.Leu1907=
XM_017009228.2:c.5568G>A	XP_016864717.1:p.Leu1856=
NM_001999.4:c.5721G>A MANE Select	NP_001990.2:p.Leu1907=