Canonical Allele Identifier: CA446310745

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2035162
• ClinVar RCV Id: RCV002889898
• gnomAD v4: 5-128338121-G-A
• MyVariant Identifiers: chr5:g.127673813G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338121G>A , CM000667.2:g.128338121G>A	GRCh38
NC_000005.9:g.127673813G>A , CM000667.1:g.127673813G>A	GRCh37
NC_000005.8:g.127701712G>A	NCBI36
NG_008750.1:g.204923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.258C>T
ENST00000703785.1:n.339C>T
ENST00000262464.9:c.3474C>T MANE Select	ENSP00000262464.4:p.Asp1158=
ENST00000262464.8:c.3474C>T	ENSP00000262464.4:p.Asp1158=
ENST00000507835.5:c.24C>T	ENSP00000426839.1:p.Asp8=
ENST00000508053.5:c.3474C>T	ENSP00000424571.1:p.Asp1158=
ENST00000508989.5:c.3375C>T	ENSP00000425596.1:p.Asp1125=
ENST00000619499.4:c.3471C>T	ENSP00000482132.1:p.Asp1157=
NM_001999.3:c.3474C>T	NP_001990.2:p.Asp1158=
XM_017009228.2:c.3321C>T	XP_016864717.1:p.Asp1107=
NM_001999.4:c.3474C>T MANE Select	NP_001990.2:p.Asp1158=