Canonical Allele Identifier: CA127013681

Gene: FBN2

Linked Data

• dbSNP Id: rs930932656
• gnomAD v2: 5-127670977-T-C
• gnomAD v3: 5-128335285-T-C
• gnomAD v4: 5-128335285-T-C
• MyVariant Identifiers: chr5:g.127670977T>C (hg19) ; chr5:g.128335285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335285T>C , CM000667.2:g.128335285T>C	GRCh38
NC_000005.9:g.127670977T>C , CM000667.1:g.127670977T>C	GRCh37
NC_000005.8:g.127698876T>C	NCBI36
NG_008750.1:g.207759A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.642A>G
ENST00000703785.1:n.723A>G
ENST00000262464.9:c.3858A>G MANE Select	ENSP00000262464.4:p.Glu1286=
ENST00000262464.8:c.3858A>G	ENSP00000262464.4:p.Glu1286=
ENST00000507835.5:c.408A>G	ENSP00000426839.1:p.Glu136=
ENST00000508053.5:c.3858A>G	ENSP00000424571.1:p.Glu1286=
ENST00000508989.5:c.3759A>G	ENSP00000425596.1:p.Glu1253=
ENST00000619499.4:c.3855A>G	ENSP00000482132.1:p.Glu1285=
NM_001999.3:c.3858A>G	NP_001990.2:p.Glu1286=
XM_017009228.2:c.3705A>G	XP_016864717.1:p.Glu1235=
NM_001999.4:c.3858A>G MANE Select	NP_001990.2:p.Glu1286=