Canonical Allele Identifier: CA446308393

Gene: FBN2

Linked Data

• gnomAD v4: 5-128527888-T-C
• MyVariant Identifiers: chr5:g.127863581T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128527888T>C , CM000667.2:g.128527888T>C	GRCh38
NC_000005.9:g.127863581T>C , CM000667.1:g.127863581T>C	GRCh37
NC_000005.8:g.127891480T>C	NCBI36
NG_008750.1:g.15155A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.516A>G	ENSP00000424571.2:p.Gly172=
ENST00000703787.1:n.223A>G
ENST00000262464.9:c.516A>G MANE Select	ENSP00000262464.4:p.Gly172=
ENST00000262464.8:c.516A>G	ENSP00000262464.4:p.Gly172=
ENST00000502468.5:c.516A>G	ENSP00000424753.1:p.Gly172=
ENST00000508053.5:c.516A>G	ENSP00000424571.1:p.Gly172=
ENST00000508989.5:c.417A>G	ENSP00000425596.1:p.Gly139=
ENST00000514742.1:n.1136A>G
ENST00000619499.4:c.516A>G	ENSP00000482132.1:p.Gly172=
ENST00000620257.1:c.516A>G	ENSP00000479157.1:p.Gly172=
NM_001999.3:c.516A>G	NP_001990.2:p.Gly172=
XM_017009228.2:c.516A>G	XP_016864717.1:p.Gly172=
NM_001999.4:c.516A>G MANE Select	NP_001990.2:p.Gly172=