Canonical Allele Identifier: CA10587595

Gene: FBN2

Linked Data

• ClinVar Variation Id: 263329
• ClinVar RCV Id: RCV000252393 ; RCV001857853
• dbSNP Id: rs763870762
• gnomAD v2: 5-127599274-C-A
• gnomAD v4: 5-128263582-C-A
• MyVariant Identifiers: chr5:g.127599274C>A (hg19) ; chr5:g.128263582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128263582C>A , CM000667.2:g.128263582C>A	GRCh38
NC_000005.9:g.127599274C>A , CM000667.1:g.127599274C>A	GRCh37
NC_000005.8:g.127627173C>A	NCBI36
NG_008750.1:g.279462G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703782.1:n.150G>T
ENST00000262464.9:c.8035G>T MANE Select	ENSP00000262464.4:p.Ala2679Ser
ENST00000262464.8:c.8035G>T	ENSP00000262464.4:p.Ala2679Ser
ENST00000508053.5:c.8035G>T	ENSP00000424571.1:p.Ala2679Ser
ENST00000619499.4:c.8032G>T	ENSP00000482132.1:p.Ala2678Ser
NM_001999.3:c.8035G>T	NP_001990.2:p.Ala2679Ser
XM_017009228.2:c.7882G>T	XP_016864717.1:p.Ala2628Ser
NM_001999.4:c.8035G>T MANE Select	NP_001990.2:p.Ala2679Ser