Canonical Allele Identifier: CA360767453

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693046A>T (hg19) ; chr5:g.128357354A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357354A>T , CM000667.2:g.128357354A>T	GRCh38
NC_000005.9:g.127693046A>T , CM000667.1:g.127693046A>T	GRCh37
NC_000005.8:g.127720945A>T	NCBI36
NG_008750.1:g.185690T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2596T>A MANE Select	ENSP00000262464.4:p.Cys866Ser
ENST00000262464.8:c.2596T>A	ENSP00000262464.4:p.Cys866Ser
ENST00000508053.5:c.2596T>A	ENSP00000424571.1:p.Cys866Ser
ENST00000508989.5:c.2497T>A	ENSP00000425596.1:p.Cys833Ser
ENST00000619499.4:c.2593T>A	ENSP00000482132.1:p.Cys865Ser
NM_001999.3:c.2596T>A	NP_001990.2:p.Cys866Ser
XM_017009228.2:c.2443T>A	XP_016864717.1:p.Cys815Ser
NM_001999.4:c.2596T>A MANE Select	NP_001990.2:p.Cys866Ser