Canonical Allele Identifier: CA127014880

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1561855
• ClinVar RCV Id: RCV002200447
• dbSNP Id: rs945523399
• gnomAD v3: 5-128338028-G-A
• gnomAD v4: 5-128338028-G-A
• MyVariant Identifiers: chr5:g.127673720G>A (hg19) ; chr5:g.128338028G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338028G>A , CM000667.2:g.128338028G>A	GRCh38
NC_000005.9:g.127673720G>A , CM000667.1:g.127673720G>A	GRCh37
NC_000005.8:g.127701619G>A	NCBI36
NG_008750.1:g.205016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.351C>T
ENST00000703785.1:n.432C>T
ENST00000262464.9:c.3567C>T MANE Select	ENSP00000262464.4:p.His1189=
ENST00000262464.8:c.3567C>T	ENSP00000262464.4:p.His1189=
ENST00000507835.5:c.117C>T	ENSP00000426839.1:p.His39=
ENST00000508053.5:c.3567C>T	ENSP00000424571.1:p.His1189=
ENST00000508989.5:c.3468C>T	ENSP00000425596.1:p.His1156=
ENST00000619499.4:c.3564C>T	ENSP00000482132.1:p.His1188=
NM_001999.3:c.3567C>T	NP_001990.2:p.His1189=
XM_017009228.2:c.3414C>T	XP_016864717.1:p.His1138=
NM_001999.4:c.3567C>T MANE Select	NP_001990.2:p.His1189=