Canonical Allele Identifier: CA360755268

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2772835
• ClinVar RCV Id: RCV003526627
• MyVariant Identifiers: chr5:g.127668691C>G (hg19) ; chr5:g.128332999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332999C>G , CM000667.2:g.128332999C>G	GRCh38
NC_000005.9:g.127668691C>G , CM000667.1:g.127668691C>G	GRCh37
NC_000005.8:g.127696590C>G	NCBI36
NG_008750.1:g.210045G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.919G>C
ENST00000703785.1:n.1000G>C
ENST00000262464.9:c.4135G>C MANE Select	ENSP00000262464.4:p.Asp1379His
ENST00000262464.8:c.4135G>C	ENSP00000262464.4:p.Asp1379His
ENST00000507835.5:c.685G>C	ENSP00000426839.1:p.Asp229His
ENST00000508053.5:c.4135G>C	ENSP00000424571.1:p.Asp1379His
ENST00000508989.5:c.4036G>C	ENSP00000425596.1:p.Asp1346His
ENST00000619499.4:c.4132G>C	ENSP00000482132.1:p.Asp1378His
NM_001999.3:c.4135G>C	NP_001990.2:p.Asp1379His
XM_017009228.2:c.3982G>C	XP_016864717.1:p.Asp1328His
NM_001999.4:c.4135G>C MANE Select	NP_001990.2:p.Asp1379His