Canonical Allele Identifier: CA16619323
Gene: EXT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423047
ClinVar RCV Id: RCV000478833
dbSNP Id: rs1064796192

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44234237del , CM000673.2:g.44234237del GRCh38
NC_000011.9:g.44255787del , CM000673.1:g.44255787del GRCh37
NC_000011.8:g.44212363del NCBI36
NG_007560.1:g.143689del , LRG_494:g.143689del

Transcript Alleles

HGVS Amino-acid change
ENST00000343631.4:c.1929del ENSP00000342656.3:p.Ile644SerfsTer3
ENST00000395673.8:c.1929del ENSP00000379032.4:p.Ile644SerfsTer3
ENST00000682359.1:c.1695del ENSP00000508226.1:p.Ile566SerfsTer3
ENST00000682711.1:c.303del ENSP00000506803.1:p.Ile102SerfsTer3
ENST00000682815.1:c.*889del ENSP00000507234.1:n.*889del
ENST00000682947.1:n.1913del
ENST00000682993.1:c.1929del ENSP00000507580.1:p.Ile644SerfsTer3
ENST00000683000.1:c.1929del ENSP00000508361.1:p.Ile644SerfsTer3
ENST00000683204.1:n.2244del
ENST00000683299.1:n.2346del
ENST00000683870.1:c.*623del ENSP00000507922.1:n.*623del
ENST00000683881.1:n.4490del
ENST00000684039.1:c.*401del ENSP00000507677.1:n.*401del
ENST00000684124.1:c.*821del ENSP00000508332.1:n.*821del
ENST00000684437.1:n.2277del
ENST00000684533.1:c.1593del ENSP00000507915.1:p.Ile532SerfsTer3
ENST00000533608.7:c.1929del MANE Select ENSP00000431173.2:p.Ile644SerfsTer3
ENST00000343631.3:c.1929del ENSP00000342656.3:p.Ile644SerfsTer3
ENST00000358681.8:c.1959del ENSP00000351509.4:p.Ile654SerfsTer3
ENST00000395673.7:c.2028del ENSP00000379032.3:p.Ile677SerfsTer3
ENST00000528159.1:n.362del
ENST00000533608.5:c.1929del ENSP00000431173.1:p.Ile644SerfsTer3
NM_000401.3:c.2028del , LRG_494t1:c.2028del NP_000392.3:p.Ile677SerfsTer3
NM_001178083.1:c.1959del NP_001171554.1:p.Ile654SerfsTer3
NM_207122.1:c.1929del , LRG_494t2:c.1929del NP_997005.1:p.Ile644SerfsTer3
XM_011519950.1:c.2067del XP_011518252.1:p.Ile690SerfsTer3
XM_011519951.1:c.1968del XP_011518253.1:p.Ile657SerfsTer3
NM_001178083.2:c.1959del NP_001171554.1:p.Ile654SerfsTer3
NM_207122.2:c.1929del MANE Select NP_997005.1:p.Ile644SerfsTer3
NM_001178083.3:c.1959del NP_001171554.1:p.Ile654SerfsTer3
NM_001389628.1:c.1929del NP_001376557.1:p.Ile644SerfsTer3
NM_001389630.1:c.1929del NP_001376559.1:p.Ile644SerfsTer3