Canonical Allele Identifier: CA803639021

Gene: FBN2

Linked Data

• dbSNP Id: rs1303530174
• gnomAD v2: 5-127674008-G-T
• gnomAD v3: 5-128338316-G-T
• gnomAD v4: 5-128338316-G-T
• MyVariant Identifiers: chr5:g.127674008G>T (hg19) ; chr5:g.128338316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338316G>T , CM000667.2:g.128338316G>T	GRCh38
NC_000005.9:g.127674008G>T , CM000667.1:g.127674008G>T	GRCh37
NC_000005.8:g.127701907G>T	NCBI36
NG_008750.1:g.204728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-194C>A
ENST00000703785.1:n.338-194C>A
ENST00000262464.9:c.3473-194C>A MANE Select	ENSP00000262464.4:n.3473-194C>A
ENST00000262464.8:c.3473-194C>A	ENSP00000262464.4:n.3473-194C>A
ENST00000507835.5:c.23-194C>A	ENSP00000426839.1:n.23-194C>A
ENST00000508053.5:c.3473-194C>A	ENSP00000424571.1:n.3473-194C>A
ENST00000508989.5:c.3374-194C>A	ENSP00000425596.1:n.3374-194C>A
ENST00000619499.4:c.3470-194C>A	ENSP00000482132.1:n.3470-194C>A
NM_001999.3:c.3473-194C>A	NP_001990.2:n.3473-194C>A
XM_017009228.2:c.3320-194C>A	XP_016864717.1:n.3320-194C>A
NM_001999.4:c.3473-194C>A MANE Select	NP_001990.2:n.3473-194C>A