Canonical Allele Identifier: CA3395099

Gene: FBN2

Linked Data

• dbSNP Id: rs774964133
• ExAC: 5:127670882 A / T
• gnomAD v2: 5-127670882-A-T
• gnomAD v4: 5-128335190-A-T
• MyVariant Identifiers: chr5:g.127670882A>T (hg19) ; chr5:g.128335190A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335190A>T , CM000667.2:g.128335190A>T	GRCh38
NC_000005.9:g.127670882A>T , CM000667.1:g.127670882A>T	GRCh37
NC_000005.8:g.127698781A>T	NCBI36
NG_008750.1:g.207854T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.737T>A
ENST00000703785.1:n.818T>A
ENST00000262464.9:c.3953T>A MANE Select	ENSP00000262464.4:p.Met1318Lys
ENST00000262464.8:c.3953T>A	ENSP00000262464.4:p.Met1318Lys
ENST00000507835.5:c.503T>A	ENSP00000426839.1:p.Met168Lys
ENST00000508053.5:c.3953T>A	ENSP00000424571.1:p.Met1318Lys
ENST00000508989.5:c.3854T>A	ENSP00000425596.1:p.Met1285Lys
ENST00000619499.4:c.3950T>A	ENSP00000482132.1:p.Met1317Lys
NM_001999.3:c.3953T>A	NP_001990.2:p.Met1318Lys
XM_017009228.2:c.3800T>A	XP_016864717.1:p.Met1267Lys
NM_001999.4:c.3953T>A MANE Select	NP_001990.2:p.Met1318Lys