Canonical Allele Identifier: CA126983124
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2727350
ClinVar RCV Id: RCV003526965
dbSNP Id: rs868508482

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305013T>A , CM000667.2:g.128305013T>A GRCh38
NC_000005.9:g.127640705T>A , CM000667.1:g.127640705T>A GRCh37
NC_000005.8:g.127668604T>A NCBI36
NG_008750.1:g.238031A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2528A>T
ENST00000703785.1:n.2447A>T
ENST00000262464.9:c.5744A>T MANE Select ENSP00000262464.4:p.Tyr1915Phe
ENST00000262464.8:c.5744A>T ENSP00000262464.4:p.Tyr1915Phe
ENST00000508053.5:c.5744A>T ENSP00000424571.1:p.Tyr1915Phe
ENST00000619499.4:c.5741A>T ENSP00000482132.1:p.Tyr1914Phe
NM_001999.3:c.5744A>T NP_001990.2:p.Tyr1915Phe
XM_017009228.2:c.5591A>T XP_016864717.1:p.Tyr1864Phe
NM_001999.4:c.5744A>T MANE Select NP_001990.2:p.Tyr1915Phe