Canonical Allele Identifier: CA3393866

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519858
• ClinVar RCV Id: RCV000841475 ; RCV001472324 ; RCV002313339
• dbSNP Id: rs140631421
• ExAC: 5:127597539 G / A
• gnomAD v2: 5-127597539-G-A
• gnomAD v3: 5-128261847-G-A
• gnomAD v4: 5-128261847-G-A
• COSMIC: COSM1060305 ; COSM1060306
• MyVariant Identifiers: chr5:g.127597539G>A (hg19) ; chr5:g.128261847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261847G>A , CM000667.2:g.128261847G>A	GRCh38
NC_000005.9:g.127597539G>A , CM000667.1:g.127597539G>A	GRCh37
NC_000005.8:g.127625438G>A	NCBI36
NG_008750.1:g.281197C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.8253C>T MANE Select	ENSP00000262464.4:p.Val2751=
ENST00000262464.8:c.8253C>T	ENSP00000262464.4:p.Val2751=
ENST00000508053.5:c.8253C>T	ENSP00000424571.1:p.Val2751=
ENST00000619499.4:c.8250C>T	ENSP00000482132.1:p.Val2750=
NM_001999.3:c.8253C>T	NP_001990.2:p.Val2751=
XM_017009228.2:c.8100C>T	XP_016864717.1:p.Val2700=
NM_001999.4:c.8253C>T MANE Select	NP_001990.2:p.Val2751=