Canonical Allele Identifier: CA221453326
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2848220
ClinVar RCV Id: RCV003604861
dbSNP Id: rs1000640190

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44108208C>T , CM000673.2:g.44108208C>T GRCh38
NC_000011.9:g.44129758C>T , CM000673.1:g.44129758C>T GRCh37
NC_000011.8:g.44086334C>T NCBI36
NG_007560.1:g.17660C>T , LRG_494:g.17660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343631.4:c.496C>T ENSP00000342656.3:p.Arg166Cys
ENST00000395673.8:c.496C>T ENSP00000379032.4:p.Arg166Cys
ENST00000531161.6:n.655C>T
ENST00000682359.1:c.496C>T ENSP00000508226.1:p.Arg166Cys
ENST00000682711.1:c.-544+12356C>T ENSP00000506803.1:n.-544+12356C>T
ENST00000682815.1:c.496C>T ENSP00000507234.1:p.Arg166Cys
ENST00000682947.1:n.670C>T
ENST00000682993.1:c.496C>T ENSP00000507580.1:p.Arg166Cys
ENST00000683000.1:c.496C>T ENSP00000508361.1:p.Arg166Cys
ENST00000683299.1:n.913C>T
ENST00000683870.1:c.496C>T ENSP00000507922.1:p.Arg166Cys
ENST00000683881.1:n.3057C>T
ENST00000684039.1:c.496C>T ENSP00000507677.1:p.Arg166Cys
ENST00000684124.1:c.496C>T ENSP00000508332.1:p.Arg166Cys
ENST00000684533.1:c.496C>T ENSP00000507915.1:p.Arg166Cys
ENST00000533608.7:c.496C>T MANE Select ENSP00000431173.2:p.Arg166Cys
ENST00000343631.3:c.496C>T ENSP00000342656.3:p.Arg166Cys
ENST00000358681.8:c.496C>T ENSP00000351509.4:p.Arg166Cys
ENST00000395673.7:c.595C>T ENSP00000379032.3:p.Arg199Cys
ENST00000529186.1:n.194C>T
ENST00000533608.5:c.496C>T ENSP00000431173.1:p.Arg166Cys
NM_000401.3:c.595C>T , LRG_494t1:c.595C>T NP_000392.3:p.Arg199Cys
NM_001178083.1:c.496C>T NP_001171554.1:p.Arg166Cys
NM_207122.1:c.496C>T , LRG_494t2:c.496C>T NP_997005.1:p.Arg166Cys
XM_011519950.1:c.634C>T XP_011518252.1:p.Arg212Cys
XM_011519951.1:c.535C>T XP_011518253.1:p.Arg179Cys
XM_024448383.1:c.634C>T XP_024304151.1:p.Arg212Cys
NM_001178083.2:c.496C>T NP_001171554.1:p.Arg166Cys
NM_207122.2:c.496C>T MANE Select NP_997005.1:p.Arg166Cys
NM_001178083.3:c.496C>T NP_001171554.1:p.Arg166Cys
NM_001389628.1:c.496C>T NP_001376557.1:p.Arg166Cys
NM_001389630.1:c.496C>T NP_001376559.1:p.Arg166Cys