Canonical Allele Identifier: CA211158

Gene: FBN2

Linked Data

• ClinVar Variation Id: 211002
• ClinVar RCV Id: RCV000194876 ; RCV000228293 ; RCV002277456 ; RCV002310754 ; RCV001812183
• dbSNP Id: rs116413101
• ExAC: 5:127597545 T / C
• gnomAD v2: 5-127597545-T-C
• gnomAD v3: 5-128261853-T-C
• gnomAD v4: 5-128261853-T-C
• MyVariant Identifiers: chr5:g.127597545T>C (hg19) ; chr5:g.128261853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261853T>C , CM000667.2:g.128261853T>C	GRCh38
NC_000005.9:g.127597545T>C , CM000667.1:g.127597545T>C	GRCh37
NC_000005.8:g.127625444T>C	NCBI36
NG_008750.1:g.281191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8247A>G MANE Select	ENSP00000262464.4:p.Thr2749=
ENST00000262464.8:c.8247A>G	ENSP00000262464.4:p.Thr2749=
ENST00000508053.5:c.8247A>G	ENSP00000424571.1:p.Thr2749=
ENST00000619499.4:c.8244A>G	ENSP00000482132.1:p.Thr2748=
NM_001999.3:c.8247A>G	NP_001990.2:p.Thr2749=
XM_017009228.2:c.8094A>G	XP_016864717.1:p.Thr2698=
NM_001999.4:c.8247A>G MANE Select	NP_001990.2:p.Thr2749=