Canonical Allele Identifier: CA360767331

Gene: FBN2

Linked Data

• gnomAD v4: 5-128357300-T-G
• MyVariant Identifiers: chr5:g.127692992T>G (hg19) ; chr5:g.128357300T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357300T>G , CM000667.2:g.128357300T>G	GRCh38
NC_000005.9:g.127692992T>G , CM000667.1:g.127692992T>G	GRCh37
NC_000005.8:g.127720891T>G	NCBI36
NG_008750.1:g.185744A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2650A>C MANE Select	ENSP00000262464.4:p.Ser884Arg
ENST00000262464.8:c.2650A>C	ENSP00000262464.4:p.Ser884Arg
ENST00000508053.5:c.2650A>C	ENSP00000424571.1:p.Ser884Arg
ENST00000508989.5:c.2551A>C	ENSP00000425596.1:p.Ser851Arg
ENST00000619499.4:c.2647A>C	ENSP00000482132.1:p.Ser883Arg
NM_001999.3:c.2650A>C	NP_001990.2:p.Ser884Arg
XM_017009228.2:c.2497A>C	XP_016864717.1:p.Ser833Arg
NM_001999.4:c.2650A>C MANE Select	NP_001990.2:p.Ser884Arg