Canonical Allele Identifier: CA360758156

Gene: FBN2

Linked Data

• dbSNP Id: rs1750813817
• gnomAD v4: 5-128335572-C-G
• MyVariant Identifiers: chr5:g.127671264C>G (hg19) ; chr5:g.128335572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335572C>G , CM000667.2:g.128335572C>G	GRCh38
NC_000005.9:g.127671264C>G , CM000667.1:g.127671264C>G	GRCh37
NC_000005.8:g.127699163C>G	NCBI36
NG_008750.1:g.207472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.514G>C
ENST00000703785.1:n.595G>C
ENST00000262464.9:c.3730G>C MANE Select	ENSP00000262464.4:p.Asp1244His
ENST00000262464.8:c.3730G>C	ENSP00000262464.4:p.Asp1244His
ENST00000507835.5:c.280G>C	ENSP00000426839.1:p.Asp94His
ENST00000508053.5:c.3730G>C	ENSP00000424571.1:p.Asp1244His
ENST00000508989.5:c.3631G>C	ENSP00000425596.1:p.Asp1211His
ENST00000619499.4:c.3727G>C	ENSP00000482132.1:p.Asp1243His
NM_001999.3:c.3730G>C	NP_001990.2:p.Asp1244His
XM_017009228.2:c.3577G>C	XP_016864717.1:p.Asp1193His
NM_001999.4:c.3730G>C MANE Select	NP_001990.2:p.Asp1244His