Canonical Allele Identifier: CA803642593

Gene: FBN2

Linked Data

• dbSNP Id: rs1222290797
• gnomAD v3: 5-128344321-C-T
• gnomAD v4: 5-128344321-C-T
• MyVariant Identifiers: chr5:g.127680013C>T (hg19) ; chr5:g.128344321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344321C>T , CM000667.2:g.128344321C>T	GRCh38
NC_000005.9:g.127680013C>T , CM000667.1:g.127680013C>T	GRCh37
NC_000005.8:g.127707912C>T	NCBI36
NG_008750.1:g.198723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3343+64G>A MANE Select	ENSP00000262464.4:n.3343+64G>A
ENST00000262464.8:c.3343+64G>A	ENSP00000262464.4:n.3343+64G>A
ENST00000508053.5:c.3343+64G>A	ENSP00000424571.1:n.3343+64G>A
ENST00000508989.5:c.3244+64G>A	ENSP00000425596.1:n.3244+64G>A
ENST00000619499.4:c.3340+64G>A	ENSP00000482132.1:n.3340+64G>A
NM_001999.3:c.3343+64G>A	NP_001990.2:n.3343+64G>A
XM_017009228.2:c.3190+64G>A	XP_016864717.1:n.3190+64G>A
NM_001999.4:c.3343+64G>A MANE Select	NP_001990.2:n.3343+64G>A