Canonical Allele Identifier: CA803627028

Gene: FBN2

Linked Data

• dbSNP Id: rs1190840055
• gnomAD v4: 5-128301264-C-T
• MyVariant Identifiers: chr5:g.127636956C>T (hg19) ; chr5:g.128301264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301264C>T , CM000667.2:g.128301264C>T	GRCh38
NC_000005.9:g.127636956C>T , CM000667.1:g.127636956C>T	GRCh37
NC_000005.8:g.127664855C>T	NCBI36
NG_008750.1:g.241780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+118G>A
ENST00000703785.1:n.2749+118G>A
ENST00000262464.9:c.6046+118G>A MANE Select	ENSP00000262464.4:n.6046+118G>A
ENST00000262464.8:c.6046+118G>A	ENSP00000262464.4:n.6046+118G>A
ENST00000508053.5:c.6046+118G>A	ENSP00000424571.1:n.6046+118G>A
ENST00000619499.4:c.6043+118G>A	ENSP00000482132.1:n.6043+118G>A
NM_001999.3:c.6046+118G>A	NP_001990.2:n.6046+118G>A
XM_017009228.2:c.5893+118G>A	XP_016864717.1:n.5893+118G>A
NM_001999.4:c.6046+118G>A MANE Select	NP_001990.2:n.6046+118G>A