Canonical Allele Identifier: CA380180418
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 953271
ClinVar RCV Id: RCV001225535
dbSNP Id: rs1954089321

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44108185A>G , CM000673.2:g.44108185A>G GRCh38
NC_000011.9:g.44129735A>G , CM000673.1:g.44129735A>G GRCh37
NC_000011.8:g.44086311A>G NCBI36
NG_007560.1:g.17637A>G , LRG_494:g.17637A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343631.4:c.473A>G ENSP00000342656.3:p.Asp158Gly
ENST00000395673.8:c.473A>G ENSP00000379032.4:p.Asp158Gly
ENST00000531161.6:n.632A>G
ENST00000682359.1:c.473A>G ENSP00000508226.1:p.Asp158Gly
ENST00000682711.1:c.-544+12333A>G ENSP00000506803.1:n.-544+12333A>G
ENST00000682815.1:c.473A>G ENSP00000507234.1:p.Asp158Gly
ENST00000682947.1:n.647A>G
ENST00000682993.1:c.473A>G ENSP00000507580.1:p.Asp158Gly
ENST00000683000.1:c.473A>G ENSP00000508361.1:p.Asp158Gly
ENST00000683299.1:n.890A>G
ENST00000683870.1:c.473A>G ENSP00000507922.1:p.Asp158Gly
ENST00000683881.1:n.3034A>G
ENST00000684039.1:c.473A>G ENSP00000507677.1:p.Asp158Gly
ENST00000684124.1:c.473A>G ENSP00000508332.1:p.Asp158Gly
ENST00000684533.1:c.473A>G ENSP00000507915.1:p.Asp158Gly
ENST00000533608.7:c.473A>G MANE Select ENSP00000431173.2:p.Asp158Gly
ENST00000343631.3:c.473A>G ENSP00000342656.3:p.Asp158Gly
ENST00000358681.8:c.473A>G ENSP00000351509.4:p.Asp158Gly
ENST00000395673.7:c.572A>G ENSP00000379032.3:p.Asp191Gly
ENST00000529186.1:n.171A>G
ENST00000533608.5:c.473A>G ENSP00000431173.1:p.Asp158Gly
NM_000401.3:c.572A>G , LRG_494t1:c.572A>G NP_000392.3:p.Asp191Gly
NM_001178083.1:c.473A>G NP_001171554.1:p.Asp158Gly
NM_207122.1:c.473A>G , LRG_494t2:c.473A>G NP_997005.1:p.Asp158Gly
XM_011519950.1:c.611A>G XP_011518252.1:p.Asp204Gly
XM_011519951.1:c.512A>G XP_011518253.1:p.Asp171Gly
XM_024448383.1:c.611A>G XP_024304151.1:p.Asp204Gly
NM_001178083.2:c.473A>G NP_001171554.1:p.Asp158Gly
NM_207122.2:c.473A>G MANE Select NP_997005.1:p.Asp158Gly
NM_001178083.3:c.473A>G NP_001171554.1:p.Asp158Gly
NM_001389628.1:c.473A>G NP_001376557.1:p.Asp158Gly
NM_001389630.1:c.473A>G NP_001376559.1:p.Asp158Gly