Canonical Allele Identifier: CA244153

Gene: FBN2

Linked Data

• ClinVar Variation Id: 196781
• ClinVar RCV Id: RCV000242150 ; RCV000724621 ; RCV001513936
• dbSNP Id: rs377002313
• ExAC: 5:127668735 C / A
• gnomAD v2: 5-127668735-C-A
• gnomAD v3: 5-128333043-C-A
• gnomAD v4: 5-128333043-C-A
• MyVariant Identifiers: chr5:g.127668735C>A (hg19) ; chr5:g.128333043C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333043C>A , CM000667.2:g.128333043C>A	GRCh38
NC_000005.9:g.127668735C>A , CM000667.1:g.127668735C>A	GRCh37
NC_000005.8:g.127696634C>A	NCBI36
NG_008750.1:g.210001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-9G>T
ENST00000703785.1:n.965-9G>T
ENST00000262464.9:c.4100-9G>T MANE Select	ENSP00000262464.4:n.4100-9G>T
ENST00000262464.8:c.4100-9G>T	ENSP00000262464.4:n.4100-9G>T
ENST00000507835.5:c.650-9G>T	ENSP00000426839.1:n.650-9G>T
ENST00000508053.5:c.4100-9G>T	ENSP00000424571.1:n.4100-9G>T
ENST00000508989.5:c.4001-9G>T	ENSP00000425596.1:n.4001-9G>T
ENST00000619499.4:c.4097-9G>T	ENSP00000482132.1:n.4097-9G>T
NM_001999.3:c.4100-9G>T	NP_001990.2:n.4100-9G>T
XM_017009228.2:c.3947-9G>T	XP_016864717.1:n.3947-9G>T
NM_001999.4:c.4100-9G>T MANE Select	NP_001990.2:n.4100-9G>T