Canonical Allele Identifier: CA360767428

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693037T>A (hg19) ; chr5:g.128357345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357345T>A , CM000667.2:g.128357345T>A	GRCh38
NC_000005.9:g.127693037T>A , CM000667.1:g.127693037T>A	GRCh37
NC_000005.8:g.127720936T>A	NCBI36
NG_008750.1:g.185699A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2605A>T MANE Select	ENSP00000262464.4:p.Asn869Tyr
ENST00000262464.8:c.2605A>T	ENSP00000262464.4:p.Asn869Tyr
ENST00000508053.5:c.2605A>T	ENSP00000424571.1:p.Asn869Tyr
ENST00000508989.5:c.2506A>T	ENSP00000425596.1:p.Asn836Tyr
ENST00000619499.4:c.2602A>T	ENSP00000482132.1:p.Asn868Tyr
NM_001999.3:c.2605A>T	NP_001990.2:p.Asn869Tyr
XM_017009228.2:c.2452A>T	XP_016864717.1:p.Asn818Tyr
NM_001999.4:c.2605A>T MANE Select	NP_001990.2:p.Asn869Tyr