Canonical Allele Identifier: CA360755210

Gene: FBN2

Linked Data

• gnomAD v4: 5-128332993-G-A
• MyVariant Identifiers: chr5:g.127668685G>A (hg19) ; chr5:g.128332993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332993G>A , CM000667.2:g.128332993G>A	GRCh38
NC_000005.9:g.127668685G>A , CM000667.1:g.127668685G>A	GRCh37
NC_000005.8:g.127696584G>A	NCBI36
NG_008750.1:g.210051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.925C>T
ENST00000703785.1:n.1006C>T
ENST00000262464.9:c.4141C>T MANE Select	ENSP00000262464.4:p.His1381Tyr
ENST00000262464.8:c.4141C>T	ENSP00000262464.4:p.His1381Tyr
ENST00000507835.5:c.691C>T	ENSP00000426839.1:p.His231Tyr
ENST00000508053.5:c.4141C>T	ENSP00000424571.1:p.His1381Tyr
ENST00000508989.5:c.4042C>T	ENSP00000425596.1:p.His1348Tyr
ENST00000619499.4:c.4138C>T	ENSP00000482132.1:p.His1380Tyr
NM_001999.3:c.4141C>T	NP_001990.2:p.His1381Tyr
XM_017009228.2:c.3988C>T	XP_016864717.1:p.His1330Tyr
NM_001999.4:c.4141C>T MANE Select	NP_001990.2:p.His1381Tyr