Canonical Allele Identifier: CA380179401
Gene: EXT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44107711T>C , CM000673.2:g.44107711T>C GRCh38
NC_000011.9:g.44129261T>C , CM000673.1:g.44129261T>C GRCh37
NC_000011.8:g.44085837T>C NCBI36
NG_007560.1:g.17163T>C , LRG_494:g.17163T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343631.4:c.-2T>C ENSP00000342656.3:n.-2T>C
ENST00000395673.8:c.-2T>C ENSP00000379032.4:n.-2T>C
ENST00000531161.6:n.158T>C
ENST00000682359.1:c.-2T>C ENSP00000508226.1:n.-2T>C
ENST00000682711.1:c.-544+11859T>C ENSP00000506803.1:n.-544+11859T>C
ENST00000682815.1:c.-2T>C ENSP00000507234.1:n.-2T>C
ENST00000682947.1:n.173T>C
ENST00000682993.1:c.-2T>C ENSP00000507580.1:n.-2T>C
ENST00000683000.1:c.-2T>C ENSP00000508361.1:n.-2T>C
ENST00000683299.1:n.416T>C
ENST00000683870.1:c.-2T>C ENSP00000507922.1:n.-2T>C
ENST00000683881.1:n.2560T>C
ENST00000684039.1:c.-2T>C ENSP00000507677.1:n.-2T>C
ENST00000684124.1:c.-2T>C ENSP00000508332.1:n.-2T>C
ENST00000684533.1:c.-2T>C ENSP00000507915.1:n.-2T>C
ENST00000533608.7:c.-2T>C MANE Select ENSP00000431173.2:n.-2T>C
ENST00000343631.3:c.-2T>C ENSP00000342656.3:n.-2T>C
ENST00000358681.8:c.-2T>C ENSP00000351509.4:n.-2T>C
ENST00000395673.7:c.98T>C ENSP00000379032.3:p.Ile33Thr
ENST00000527014.1:c.-2T>C ENSP00000434716.1:n.-2T>C
ENST00000532479.1:c.-2T>C ENSP00000433827.1:n.-2T>C
ENST00000533608.5:c.-2T>C ENSP00000431173.1:n.-2T>C
NM_000401.3:c.98T>C , LRG_494t1:c.98T>C NP_000392.3:p.Ile33Thr
NM_001178083.1:c.-2T>C NP_001171554.1:n.-2T>C
NM_207122.1:c.-2T>C , LRG_494t2:c.-2T>C NP_997005.1:n.-2T>C
XM_011519950.1:c.137T>C XP_011518252.1:p.Ile46Thr
XM_011519951.1:c.38T>C XP_011518253.1:p.Ile13Thr
XM_024448383.1:c.137T>C XP_024304151.1:p.Ile46Thr
NM_001178083.2:c.-2T>C NP_001171554.1:n.-2T>C
NM_207122.2:c.-2T>C MANE Select NP_997005.1:n.-2T>C
NM_001178083.3:c.-2T>C NP_001171554.1:n.-2T>C
NM_001389628.1:c.-2T>C NP_001376557.1:n.-2T>C
NM_001389630.1:c.-2T>C NP_001376559.1:n.-2T>C