Canonical Allele Identifier: CA127013685

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1590326
• ClinVar RCV Id: RCV002107388
• dbSNP Id: rs983684093
• MyVariant Identifiers: chr5:g.127670986G>A (hg19) ; chr5:g.128335294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335294G>A , CM000667.2:g.128335294G>A	GRCh38
NC_000005.9:g.127670986G>A , CM000667.1:g.127670986G>A	GRCh37
NC_000005.8:g.127698885G>A	NCBI36
NG_008750.1:g.207750C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.633C>T
ENST00000703785.1:n.714C>T
ENST00000262464.9:c.3849C>T MANE Select	ENSP00000262464.4:p.Asp1283=
ENST00000262464.8:c.3849C>T	ENSP00000262464.4:p.Asp1283=
ENST00000507835.5:c.399C>T	ENSP00000426839.1:p.Asp133=
ENST00000508053.5:c.3849C>T	ENSP00000424571.1:p.Asp1283=
ENST00000508989.5:c.3750C>T	ENSP00000425596.1:p.Asp1250=
ENST00000619499.4:c.3846C>T	ENSP00000482132.1:p.Asp1282=
NM_001999.3:c.3849C>T	NP_001990.2:p.Asp1283=
XM_017009228.2:c.3696C>T	XP_016864717.1:p.Asp1232=
NM_001999.4:c.3849C>T MANE Select	NP_001990.2:p.Asp1283=