Canonical Allele Identifier: CA360767266

Gene: FBN2

Linked Data

• gnomAD v4: 5-128357281-C-T
• MyVariant Identifiers: chr5:g.127692973C>T (hg19) ; chr5:g.128357281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357281C>T , CM000667.2:g.128357281C>T	GRCh38
NC_000005.9:g.127692973C>T , CM000667.1:g.127692973C>T	GRCh37
NC_000005.8:g.127720872C>T	NCBI36
NG_008750.1:g.185763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2669G>A MANE Select	ENSP00000262464.4:p.Cys890Tyr
ENST00000262464.8:c.2669G>A	ENSP00000262464.4:p.Cys890Tyr
ENST00000508053.5:c.2669G>A	ENSP00000424571.1:p.Cys890Tyr
ENST00000508989.5:c.2570G>A	ENSP00000425596.1:p.Cys857Tyr
ENST00000619499.4:c.2666G>A	ENSP00000482132.1:p.Cys889Tyr
NM_001999.3:c.2669G>A	NP_001990.2:p.Cys890Tyr
XM_017009228.2:c.2516G>A	XP_016864717.1:p.Cys839Tyr
NM_001999.4:c.2669G>A MANE Select	NP_001990.2:p.Cys890Tyr