Canonical Allele Identifier: CA562717114

Gene: FBN2

Linked Data

• dbSNP Id: rs1288938096
• gnomAD v2: 5-127636501-A-G
• gnomAD v4: 5-128300809-A-G
• MyVariant Identifiers: chr5:g.127636501A>G (hg19) ; chr5:g.128300809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300809A>G , CM000667.2:g.128300809A>G	GRCh38
NC_000005.9:g.127636501A>G , CM000667.1:g.127636501A>G	GRCh37
NC_000005.8:g.127664400A>G	NCBI36
NG_008750.1:g.242235T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2950+8T>C
ENST00000703785.1:n.2869+8T>C
ENST00000262464.9:c.6166+8T>C MANE Select	ENSP00000262464.4:n.6166+8T>C
ENST00000262464.8:c.6166+8T>C	ENSP00000262464.4:n.6166+8T>C
ENST00000508053.5:c.6166+8T>C	ENSP00000424571.1:n.6166+8T>C
ENST00000619499.4:c.6163+8T>C	ENSP00000482132.1:n.6163+8T>C
NM_001999.3:c.6166+8T>C	NP_001990.2:n.6166+8T>C
XM_017009228.2:c.6013+8T>C	XP_016864717.1:n.6013+8T>C
NM_001999.4:c.6166+8T>C MANE Select	NP_001990.2:n.6166+8T>C