Canonical Allele Identifier: CA5955076
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 304585
dbSNP Id: rs11828047

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44126893T>C , CM000673.2:g.44126893T>C GRCh38
NC_000011.9:g.44148443T>C , CM000673.1:g.44148443T>C GRCh37
NC_000011.8:g.44105019T>C NCBI36
NG_007560.1:g.36345T>C , LRG_494:g.36345T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000533608.7:c.1017T>C MANE Select ENSP00000431173.2:p.Cys339=
ENST00000343631.3:c.1017T>C ENSP00000342656.3:p.Cys339=
ENST00000358681.8:c.1017T>C ENSP00000351509.4:p.Cys339=
ENST00000395673.7:c.1116T>C ENSP00000379032.3:p.Cys372=
ENST00000531161.5:n.194T>C
ENST00000533608.5:c.1017T>C ENSP00000431173.1:p.Cys339=
NM_000401.3:c.1116T>C , LRG_494t1:c.1116T>C NP_000392.3:p.Cys372=
NM_001178083.1:c.1017T>C NP_001171554.1:p.Cys339=
NM_207122.1:c.1017T>C , LRG_494t2:c.1017T>C NP_997005.1:p.Cys339=
XM_011519950.1:c.1155T>C XP_011518252.1:p.Cys385=
XM_011519951.1:c.1056T>C XP_011518253.1:p.Cys352=
XM_024448383.1:c.1155T>C XP_024304151.1:p.Cys385=
NM_001178083.2:c.1017T>C NP_001171554.1:p.Cys339=
NM_207122.2:c.1017T>C MANE Select NP_997005.1:p.Cys339=
NM_001178083.3:c.1017T>C NP_001171554.1:p.Cys339=
NM_001389628.1:c.1017T>C NP_001376557.1:p.Cys339=
NM_001389630.1:c.1017T>C NP_001376559.1:p.Cys339=