Canonical Allele Identifier: CA127005754

Gene: FBN2

Linked Data

• dbSNP Id: rs201656391
• MyVariant Identifiers: chr5:g.127666350G>T (hg19) ; chr5:g.128330658G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330658G>T , CM000667.2:g.128330658G>T	GRCh38
NC_000005.9:g.127666350G>T , CM000667.1:g.127666350G>T	GRCh37
NC_000005.8:g.127694249G>T	NCBI36
NG_008750.1:g.212386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1044C>A
ENST00000703785.1:n.1125C>A
ENST00000262464.9:c.4260C>A MANE Select	ENSP00000262464.4:p.Ser1420Arg
ENST00000262464.8:c.4260C>A	ENSP00000262464.4:p.Ser1420Arg
ENST00000507835.5:c.810C>A	ENSP00000426839.1:p.Ser270Arg
ENST00000508053.5:c.4260C>A	ENSP00000424571.1:p.Ser1420Arg
ENST00000508989.5:c.4161C>A	ENSP00000425596.1:p.Ser1387Arg
ENST00000619499.4:c.4257C>A	ENSP00000482132.1:p.Ser1419Arg
NM_001999.3:c.4260C>A	NP_001990.2:p.Ser1420Arg
XM_017009228.2:c.4107C>A	XP_016864717.1:p.Ser1369Arg
NM_001999.4:c.4260C>A MANE Select	NP_001990.2:p.Ser1420Arg