Canonical Allele Identifier: CA446310082

Gene: FBN2

Linked Data

• dbSNP Id: rs1750803422
• gnomAD v4: 5-128335252-G-T
• MyVariant Identifiers: chr5:g.127670944G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335252G>T , CM000667.2:g.128335252G>T	GRCh38
NC_000005.9:g.127670944G>T , CM000667.1:g.127670944G>T	GRCh37
NC_000005.8:g.127698843G>T	NCBI36
NG_008750.1:g.207792C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.675C>A
ENST00000703785.1:n.756C>A
ENST00000262464.9:c.3891C>A MANE Select	ENSP00000262464.4:p.Gly1297=
ENST00000262464.8:c.3891C>A	ENSP00000262464.4:p.Gly1297=
ENST00000507835.5:c.441C>A	ENSP00000426839.1:p.Gly147=
ENST00000508053.5:c.3891C>A	ENSP00000424571.1:p.Gly1297=
ENST00000508989.5:c.3792C>A	ENSP00000425596.1:p.Gly1264=
ENST00000619499.4:c.3888C>A	ENSP00000482132.1:p.Gly1296=
NM_001999.3:c.3891C>A	NP_001990.2:p.Gly1297=
XM_017009228.2:c.3738C>A	XP_016864717.1:p.Gly1246=
NM_001999.4:c.3891C>A MANE Select	NP_001990.2:p.Gly1297=