Canonical Allele Identifier: CA323415

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213311
• ClinVar RCV Id: RCV000198884
• dbSNP Id: rs863223566
• gnomAD v4: 5-128338029-T-G
• MyVariant Identifiers: chr5:g.127673721T>G (hg19) ; chr5:g.128338029T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338029T>G , CM000667.2:g.128338029T>G	GRCh38
NC_000005.9:g.127673721T>G , CM000667.1:g.127673721T>G	GRCh37
NC_000005.8:g.127701620T>G	NCBI36
NG_008750.1:g.205015A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.350A>C
ENST00000703785.1:n.431A>C
ENST00000262464.9:c.3566A>C MANE Select	ENSP00000262464.4:p.His1189Pro
ENST00000262464.8:c.3566A>C	ENSP00000262464.4:p.His1189Pro
ENST00000507835.5:c.116A>C	ENSP00000426839.1:p.His39Pro
ENST00000508053.5:c.3566A>C	ENSP00000424571.1:p.His1189Pro
ENST00000508989.5:c.3467A>C	ENSP00000425596.1:p.His1156Pro
ENST00000619499.4:c.3563A>C	ENSP00000482132.1:p.His1188Pro
NM_001999.3:c.3566A>C	NP_001990.2:p.His1189Pro
XM_017009228.2:c.3413A>C	XP_016864717.1:p.His1138Pro
NM_001999.4:c.3566A>C MANE Select	NP_001990.2:p.His1189Pro