Canonical Allele Identifier: CA803642546

Gene: FBN2

Linked Data

• dbSNP Id: rs1228426478
• gnomAD v3: 5-128344221-A-G
• gnomAD v4: 5-128344221-A-G
• MyVariant Identifiers: chr5:g.127679913A>G (hg19) ; chr5:g.128344221A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344221A>G , CM000667.2:g.128344221A>G	GRCh38
NC_000005.9:g.127679913A>G , CM000667.1:g.127679913A>G	GRCh37
NC_000005.8:g.127707812A>G	NCBI36
NG_008750.1:g.198823T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3343+164T>C MANE Select	ENSP00000262464.4:n.3343+164T>C
ENST00000262464.8:c.3343+164T>C	ENSP00000262464.4:n.3343+164T>C
ENST00000508053.5:c.3343+164T>C	ENSP00000424571.1:n.3343+164T>C
ENST00000508989.5:c.3244+164T>C	ENSP00000425596.1:n.3244+164T>C
ENST00000619499.4:c.3340+164T>C	ENSP00000482132.1:n.3340+164T>C
NM_001999.3:c.3343+164T>C	NP_001990.2:n.3343+164T>C
XM_017009228.2:c.3190+164T>C	XP_016864717.1:n.3190+164T>C
NM_001999.4:c.3343+164T>C MANE Select	NP_001990.2:n.3343+164T>C