Canonical Allele Identifier: CA360750275

Gene: FBN2

Linked Data

• gnomAD v4: 5-128395124-G-A
• MyVariant Identifiers: chr5:g.127730817G>A (hg19) ; chr5:g.128395124G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.936C>T
ENST00000262464.9:c.1229C>T MANE Select	ENSP00000262464.4:p.Ser410Phe
ENST00000262464.8:c.1229C>T	ENSP00000262464.4:p.Ser410Phe
ENST00000508053.5:c.1229C>T	ENSP00000424571.1:p.Ser410Phe
ENST00000508989.5:c.1130C>T	ENSP00000425596.1:p.Ser377Phe
ENST00000619499.4:c.1226C>T	ENSP00000482132.1:p.Ser409Phe
NM_001999.3:c.1229C>T	NP_001990.2:p.Ser410Phe
XM_017009228.2:c.1079-1756C>T	XP_016864717.1:n.1079-1756C>T
NM_001999.4:c.1229C>T MANE Select	NP_001990.2:p.Ser410Phe