Canonical Allele Identifier: CA380180148
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062565
ClinVar RCV Id: RCV001372299
dbSNP Id: rs1470293557

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44108055G>A , CM000673.2:g.44108055G>A GRCh38
NC_000011.9:g.44129605G>A , CM000673.1:g.44129605G>A GRCh37
NC_000011.8:g.44086181G>A NCBI36
NG_007560.1:g.17507G>A , LRG_494:g.17507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343631.4:c.343G>A ENSP00000342656.3:p.Val115Met
ENST00000395673.8:c.343G>A ENSP00000379032.4:p.Val115Met
ENST00000531161.6:n.502G>A
ENST00000682359.1:c.343G>A ENSP00000508226.1:p.Val115Met
ENST00000682711.1:c.-544+12203G>A ENSP00000506803.1:n.-544+12203G>A
ENST00000682815.1:c.343G>A ENSP00000507234.1:p.Val115Met
ENST00000682947.1:n.517G>A
ENST00000682993.1:c.343G>A ENSP00000507580.1:p.Val115Met
ENST00000683000.1:c.343G>A ENSP00000508361.1:p.Val115Met
ENST00000683299.1:n.760G>A
ENST00000683870.1:c.343G>A ENSP00000507922.1:p.Val115Met
ENST00000683881.1:n.2904G>A
ENST00000684039.1:c.343G>A ENSP00000507677.1:p.Val115Met
ENST00000684124.1:c.343G>A ENSP00000508332.1:p.Val115Met
ENST00000684533.1:c.343G>A ENSP00000507915.1:p.Val115Met
ENST00000533608.7:c.343G>A MANE Select ENSP00000431173.2:p.Val115Met
ENST00000343631.3:c.343G>A ENSP00000342656.3:p.Val115Met
ENST00000358681.8:c.343G>A ENSP00000351509.4:p.Val115Met
ENST00000395673.7:c.442G>A ENSP00000379032.3:p.Val148Met
ENST00000529186.1:n.41G>A
ENST00000533608.5:c.343G>A ENSP00000431173.1:p.Val115Met
NM_000401.3:c.442G>A , LRG_494t1:c.442G>A NP_000392.3:p.Val148Met
NM_001178083.1:c.343G>A NP_001171554.1:p.Val115Met
NM_207122.1:c.343G>A , LRG_494t2:c.343G>A NP_997005.1:p.Val115Met
XM_011519950.1:c.481G>A XP_011518252.1:p.Val161Met
XM_011519951.1:c.382G>A XP_011518253.1:p.Val128Met
XM_024448383.1:c.481G>A XP_024304151.1:p.Val161Met
NM_001178083.2:c.343G>A NP_001171554.1:p.Val115Met
NM_207122.2:c.343G>A MANE Select NP_997005.1:p.Val115Met
NM_001178083.3:c.343G>A NP_001171554.1:p.Val115Met
NM_001389628.1:c.343G>A NP_001376557.1:p.Val115Met
NM_001389630.1:c.343G>A NP_001376559.1:p.Val115Met