Canonical Allele Identifier: CA360739975

Gene: FBN2

Linked Data

• gnomAD v4: 5-128305019-C-T
• MyVariant Identifiers: chr5:g.127640711C>T (hg19) ; chr5:g.128305019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305019C>T , CM000667.2:g.128305019C>T	GRCh38
NC_000005.9:g.127640711C>T , CM000667.1:g.127640711C>T	GRCh37
NC_000005.8:g.127668610C>T	NCBI36
NG_008750.1:g.238025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2522G>A
ENST00000703785.1:n.2441G>A
ENST00000262464.9:c.5738G>A MANE Select	ENSP00000262464.4:p.Gly1913Glu
ENST00000262464.8:c.5738G>A	ENSP00000262464.4:p.Gly1913Glu
ENST00000508053.5:c.5738G>A	ENSP00000424571.1:p.Gly1913Glu
ENST00000619499.4:c.5735G>A	ENSP00000482132.1:p.Gly1912Glu
NM_001999.3:c.5738G>A	NP_001990.2:p.Gly1913Glu
XM_017009228.2:c.5585G>A	XP_016864717.1:p.Gly1862Glu
NM_001999.4:c.5738G>A MANE Select	NP_001990.2:p.Gly1913Glu