Canonical Allele Identifier: CA392337932

Gene: FBN1

Linked Data

• dbSNP Id: rs1452793240
• gnomAD v2: 15-48733926-C-T
• MyVariant Identifiers: chr15:g.48733926C>T (hg19) ; chr15:g.48441729C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441729C>T , CM000677.2:g.48441729C>T	GRCh38
NC_000015.9:g.48733926C>T , CM000677.1:g.48733926C>T	GRCh37
NC_000015.8:g.46521218C>T	NCBI36
NG_008805.2:g.209060G>A , LRG_778:g.209060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6155G>A	ENSP00000453958.2:p.Arg2052Lys
ENST00000674301.2:c.6155G>A	ENSP00000501333.2:p.Arg2052Lys
ENST00000316623.10:c.6155G>A MANE Select	ENSP00000325527.5:p.Arg2052Lys
ENST00000674301.1:c.1154G>A	ENSP00000501333.1:p.Arg385Lys
ENST00000316623.9:c.6155G>A	ENSP00000325527.5:p.Arg2052Lys
ENST00000537463.6:c.*1918G>A	ENSP00000440294.2:n.*1918G>A
ENST00000559133.5:c.1462G>A
ENST00000560820.1:n.275G>A
NM_000138.4:c.6155G>A , LRG_778t1:c.6155G>A	NP_000129.3:p.Arg2052Lys
NM_000138.5:c.6155G>A MANE Select	NP_000129.3:p.Arg2052Lys