Canonical Allele Identifier: CA658657486

Gene: FBN2

Linked Data

• ClinVar Variation Id: 449443
• ClinVar RCV Id: RCV000519448 ; RCV002525118
• dbSNP Id: rs1554122550
• MyVariant Identifiers: chr5:g.127668599C>T (hg19) ; chr5:g.128332907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332907C>T , CM000667.2:g.128332907C>T	GRCh38
NC_000005.9:g.127668599C>T , CM000667.1:g.127668599C>T	GRCh37
NC_000005.8:g.127696498C>T	NCBI36
NG_008750.1:g.210137G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1006+5G>A
ENST00000703785.1:n.1087+5G>A
ENST00000262464.9:c.4222+5G>A MANE Select	ENSP00000262464.4:n.4222+5G>A
ENST00000262464.8:c.4222+5G>A	ENSP00000262464.4:n.4222+5G>A
ENST00000507835.5:c.772+5G>A	ENSP00000426839.1:n.772+5G>A
ENST00000508053.5:c.4222+5G>A	ENSP00000424571.1:n.4222+5G>A
ENST00000508989.5:c.4123+5G>A	ENSP00000425596.1:n.4123+5G>A
ENST00000619499.4:c.4219+5G>A	ENSP00000482132.1:n.4219+5G>A
NM_001999.3:c.4222+5G>A	NP_001990.2:n.4222+5G>A
XM_017009228.2:c.4069+5G>A	XP_016864717.1:n.4069+5G>A
NM_001999.4:c.4222+5G>A MANE Select	NP_001990.2:n.4222+5G>A