Canonical Allele Identifier: CA360754111

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2806624
• ClinVar RCV Id: RCV003641405
• gnomAD v4: 5-128330650-G-A
• MyVariant Identifiers: chr5:g.127666342G>A (hg19) ; chr5:g.128330650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330650G>A , CM000667.2:g.128330650G>A	GRCh38
NC_000005.9:g.127666342G>A , CM000667.1:g.127666342G>A	GRCh37
NC_000005.8:g.127694241G>A	NCBI36
NG_008750.1:g.212394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1052C>T
ENST00000703785.1:n.1133C>T
ENST00000262464.9:c.4268C>T MANE Select	ENSP00000262464.4:p.Ala1423Val
ENST00000262464.8:c.4268C>T	ENSP00000262464.4:p.Ala1423Val
ENST00000507835.5:c.818C>T	ENSP00000426839.1:p.Ala273Val
ENST00000508053.5:c.4268C>T	ENSP00000424571.1:p.Ala1423Val
ENST00000508989.5:c.4169C>T	ENSP00000425596.1:p.Ala1390Val
ENST00000619499.4:c.4265C>T	ENSP00000482132.1:p.Ala1422Val
NM_001999.3:c.4268C>T	NP_001990.2:p.Ala1423Val
XM_017009228.2:c.4115C>T	XP_016864717.1:p.Ala1372Val
NM_001999.4:c.4268C>T MANE Select	NP_001990.2:p.Ala1423Val