Canonical Allele Identifier: CA3395040

Gene: FBN2

Linked Data

• dbSNP Id: rs756142055
• ExAC: 5:127668619 C / T
• gnomAD v2: 5-127668619-C-T
• gnomAD v3: 5-128332927-C-T
• gnomAD v4: 5-128332927-C-T
• MyVariant Identifiers: chr5:g.127668619C>T (hg19) ; chr5:g.128332927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332927C>T , CM000667.2:g.128332927C>T	GRCh38
NC_000005.9:g.127668619C>T , CM000667.1:g.127668619C>T	GRCh37
NC_000005.8:g.127696518C>T	NCBI36
NG_008750.1:g.210117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.991G>A
ENST00000703785.1:n.1072G>A
ENST00000262464.9:c.4207G>A MANE Select	ENSP00000262464.4:p.Gly1403Ser
ENST00000262464.8:c.4207G>A	ENSP00000262464.4:p.Gly1403Ser
ENST00000507835.5:c.757G>A	ENSP00000426839.1:p.Gly253Ser
ENST00000508053.5:c.4207G>A	ENSP00000424571.1:p.Gly1403Ser
ENST00000508989.5:c.4108G>A	ENSP00000425596.1:p.Gly1370Ser
ENST00000619499.4:c.4204G>A	ENSP00000482132.1:p.Gly1402Ser
NM_001999.3:c.4207G>A	NP_001990.2:p.Gly1403Ser
XM_017009228.2:c.4054G>A	XP_016864717.1:p.Gly1352Ser
NM_001999.4:c.4207G>A MANE Select	NP_001990.2:p.Gly1403Ser