Canonical Allele Identifier: CA252302
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2476
ClinVar RCV Id: RCV000002580
dbSNP Id: rs267606786

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44124817C>T , CM000673.2:g.44124817C>T GRCh38
NC_000011.9:g.44146367C>T , CM000673.1:g.44146367C>T GRCh37
NC_000011.8:g.44102943C>T NCBI36
NG_007560.1:g.34269C>T , LRG_494:g.34269C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343631.4:c.772C>T ENSP00000342656.3:p.Gln258Ter
ENST00000395673.8:c.772C>T ENSP00000379032.4:p.Gln258Ter
ENST00000531161.6:n.931C>T
ENST00000682359.1:c.772C>T ENSP00000508226.1:p.Gln258Ter
ENST00000682711.1:c.-544+28965C>T ENSP00000506803.1:n.-544+28965C>T
ENST00000682815.1:c.772C>T ENSP00000507234.1:p.Gln258Ter
ENST00000682947.1:n.946C>T
ENST00000682993.1:c.772C>T ENSP00000507580.1:p.Gln258Ter
ENST00000683000.1:c.772C>T ENSP00000508361.1:p.Gln258Ter
ENST00000683299.1:n.1189C>T
ENST00000683870.1:c.772C>T ENSP00000507922.1:p.Gln258Ter
ENST00000683881.1:n.3333C>T
ENST00000684039.1:c.772C>T ENSP00000507677.1:p.Gln258Ter
ENST00000684124.1:c.772C>T ENSP00000508332.1:p.Gln258Ter
ENST00000684533.1:c.744-5228C>T ENSP00000507915.1:n.744-5228C>T
ENST00000533608.7:c.772C>T MANE Select ENSP00000431173.2:p.Gln258Ter
ENST00000343631.3:c.772C>T ENSP00000342656.3:p.Gln258Ter
ENST00000358681.8:c.772C>T ENSP00000351509.4:p.Gln258Ter
ENST00000395673.7:c.871C>T ENSP00000379032.3:p.Gln291Ter
ENST00000533608.5:c.772C>T ENSP00000431173.1:p.Gln258Ter
NM_000401.3:c.871C>T , LRG_494t1:c.871C>T NP_000392.3:p.Gln291Ter
NM_001178083.1:c.772C>T NP_001171554.1:p.Gln258Ter
NM_207122.1:c.772C>T , LRG_494t2:c.772C>T NP_997005.1:p.Gln258Ter
XM_011519950.1:c.910C>T XP_011518252.1:p.Gln304Ter
XM_011519951.1:c.811C>T XP_011518253.1:p.Gln271Ter
XM_024448383.1:c.910C>T XP_024304151.1:p.Gln304Ter
NM_001178083.2:c.772C>T NP_001171554.1:p.Gln258Ter
NM_207122.2:c.772C>T MANE Select NP_997005.1:p.Gln258Ter
NM_001178083.3:c.772C>T NP_001171554.1:p.Gln258Ter
NM_001389628.1:c.772C>T NP_001376557.1:p.Gln258Ter
NM_001389630.1:c.772C>T NP_001376559.1:p.Gln258Ter