Canonical Allele Identifier: CA281519

Gene: FBN2

Linked Data

• ClinVar Variation Id: 18402
• ClinVar RCV Id: RCV000000557
• dbSNP Id: rs267606802
• MyVariant Identifiers: chr5:g.127671217A>T (hg19) ; chr5:g.128335525A>T (hg38)
• PubMed: PMID:20799338

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335525A>T , CM000667.2:g.128335525A>T	GRCh38
NC_000005.9:g.127671217A>T , CM000667.1:g.127671217A>T	GRCh37
NC_000005.8:g.127699116A>T	NCBI36
NG_008750.1:g.207519T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.561T>A
ENST00000703785.1:n.642T>A
ENST00000262464.9:c.3777T>A MANE Select	ENSP00000262464.4:p.Asn1259Lys
ENST00000262464.8:c.3777T>A	ENSP00000262464.4:p.Asn1259Lys
ENST00000507835.5:c.327T>A	ENSP00000426839.1:p.Asn109Lys
ENST00000508053.5:c.3777T>A	ENSP00000424571.1:p.Asn1259Lys
ENST00000508989.5:c.3678T>A	ENSP00000425596.1:p.Asn1226Lys
ENST00000619499.4:c.3774T>A	ENSP00000482132.1:p.Asn1258Lys
NM_001999.3:c.3777T>A	NP_001990.2:p.Asn1259Lys
XM_017009228.2:c.3624T>A	XP_016864717.1:p.Asn1208Lys
NM_001999.4:c.3777T>A MANE Select	NP_001990.2:p.Asn1259Lys