Canonical Allele Identifier: CA360750277

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127730817G>T (hg19) ; chr5:g.128395124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395124G>T , CM000667.2:g.128395124G>T	GRCh38
NC_000005.9:g.127730817G>T , CM000667.1:g.127730817G>T	GRCh37
NC_000005.8:g.127758716G>T	NCBI36
NG_008750.1:g.147919C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.936C>A
ENST00000262464.9:c.1229C>A MANE Select	ENSP00000262464.4:p.Ser410Tyr
ENST00000262464.8:c.1229C>A	ENSP00000262464.4:p.Ser410Tyr
ENST00000508053.5:c.1229C>A	ENSP00000424571.1:p.Ser410Tyr
ENST00000508989.5:c.1130C>A	ENSP00000425596.1:p.Ser377Tyr
ENST00000619499.4:c.1226C>A	ENSP00000482132.1:p.Ser409Tyr
NM_001999.3:c.1229C>A	NP_001990.2:p.Ser410Tyr
XM_017009228.2:c.1079-1756C>A	XP_016864717.1:n.1079-1756C>A
NM_001999.4:c.1229C>A MANE Select	NP_001990.2:p.Ser410Tyr