Canonical Allele Identifier: CA3395201

Gene: FBN2

Linked Data

• dbSNP Id: rs375710546
• ExAC: 5:127673728 G / A
• gnomAD v2: 5-127673728-G-A
• gnomAD v3: 5-128338036-G-A
• gnomAD v4: 5-128338036-G-A
• MyVariant Identifiers: chr5:g.127673728G>A (hg19) ; chr5:g.128338036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338036G>A , CM000667.2:g.128338036G>A	GRCh38
NC_000005.9:g.127673728G>A , CM000667.1:g.127673728G>A	GRCh37
NC_000005.8:g.127701627G>A	NCBI36
NG_008750.1:g.205008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.343C>T
ENST00000703785.1:n.424C>T
ENST00000262464.9:c.3559C>T MANE Select	ENSP00000262464.4:p.Leu1187=
ENST00000262464.8:c.3559C>T	ENSP00000262464.4:p.Leu1187=
ENST00000507835.5:c.109C>T	ENSP00000426839.1:p.Leu37=
ENST00000508053.5:c.3559C>T	ENSP00000424571.1:p.Leu1187=
ENST00000508989.5:c.3460C>T	ENSP00000425596.1:p.Leu1154=
ENST00000619499.4:c.3556C>T	ENSP00000482132.1:p.Leu1186=
NM_001999.3:c.3559C>T	NP_001990.2:p.Leu1187=
XM_017009228.2:c.3406C>T	XP_016864717.1:p.Leu1136=
NM_001999.4:c.3559C>T MANE Select	NP_001990.2:p.Leu1187=