Canonical Allele Identifier: CA3394506

Gene: FBN2

Linked Data

• dbSNP Id: rs375990083
• ExAC: 5:127636608 G / T
• gnomAD v2: 5-127636608-G-T
• gnomAD v3: 5-128300916-G-T
• gnomAD v4: 5-128300916-G-T
• MyVariant Identifiers: chr5:g.127636608G>T (hg19) ; chr5:g.128300916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300916G>T , CM000667.2:g.128300916G>T	GRCh38
NC_000005.9:g.127636608G>T , CM000667.1:g.127636608G>T	GRCh37
NC_000005.8:g.127664507G>T	NCBI36
NG_008750.1:g.242128C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2851C>A
ENST00000703785.1:n.2770C>A
ENST00000262464.9:c.6067C>A MANE Select	ENSP00000262464.4:p.Leu2023Ile
ENST00000262464.8:c.6067C>A	ENSP00000262464.4:p.Leu2023Ile
ENST00000508053.5:c.6067C>A	ENSP00000424571.1:p.Leu2023Ile
ENST00000619499.4:c.6064C>A	ENSP00000482132.1:p.Leu2022Ile
NM_001999.3:c.6067C>A	NP_001990.2:p.Leu2023Ile
XM_017009228.2:c.5914C>A	XP_016864717.1:p.Leu1972Ile
NM_001999.4:c.6067C>A MANE Select	NP_001990.2:p.Leu2023Ile