Canonical Allele Identifier: CA3395868

Gene: FBN2

Linked Data

• dbSNP Id: rs767882175
• ExAC: 5:127730886 T / C
• gnomAD v2: 5-127730886-T-C
• gnomAD v3: 5-128395193-T-C
• gnomAD v4: 5-128395193-T-C
• MyVariant Identifiers: chr5:g.127730886T>C (hg19) ; chr5:g.128395193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395193T>C , CM000667.2:g.128395193T>C	GRCh38
NC_000005.9:g.127730886T>C , CM000667.1:g.127730886T>C	GRCh37
NC_000005.8:g.127758785T>C	NCBI36
NG_008750.1:g.147850A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.867A>G
ENST00000262464.9:c.1160A>G MANE Select	ENSP00000262464.4:p.Gln387Arg
ENST00000262464.8:c.1160A>G	ENSP00000262464.4:p.Gln387Arg
ENST00000508053.5:c.1160A>G	ENSP00000424571.1:p.Gln387Arg
ENST00000508989.5:c.1061A>G	ENSP00000425596.1:p.Gln354Arg
ENST00000619499.4:c.1157A>G	ENSP00000482132.1:p.Gln386Arg
NM_001999.3:c.1160A>G	NP_001990.2:p.Gln387Arg
XM_017009228.2:c.1079-1825A>G	XP_016864717.1:n.1079-1825A>G
NM_001999.4:c.1160A>G MANE Select	NP_001990.2:p.Gln387Arg