Canonical Allele Identifier: CA562717092

Gene: FBN2

Linked Data

• dbSNP Id: rs1227072744
• gnomAD v2: 5-127636172-C-T
• gnomAD v3: 5-128300480-C-T
• gnomAD v4: 5-128300480-C-T
• MyVariant Identifiers: chr5:g.127636172C>T (hg19) ; chr5:g.128300480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300480C>T , CM000667.2:g.128300480C>T	GRCh38
NC_000005.9:g.127636172C>T , CM000667.1:g.127636172C>T	GRCh37
NC_000005.8:g.127664071C>T	NCBI36
NG_008750.1:g.242564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2950+337G>A
ENST00000703785.1:n.2869+337G>A
ENST00000262464.9:c.6166+337G>A MANE Select	ENSP00000262464.4:n.6166+337G>A
ENST00000262464.8:c.6166+337G>A	ENSP00000262464.4:n.6166+337G>A
ENST00000508053.5:c.6166+337G>A	ENSP00000424571.1:n.6166+337G>A
ENST00000619499.4:c.6163+337G>A	ENSP00000482132.1:n.6163+337G>A
NM_001999.3:c.6166+337G>A	NP_001990.2:n.6166+337G>A
XM_017009228.2:c.6013+337G>A	XP_016864717.1:n.6013+337G>A
NM_001999.4:c.6166+337G>A MANE Select	NP_001990.2:n.6166+337G>A