Canonical Allele Identifier: CA2573146278

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1351327
• ClinVar RCV Id: RCV002044641
• dbSNP Id: rs2134968744

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108228del , CM000673.2:g.44108228del	GRCh38
NC_000011.9:g.44129778del , CM000673.1:g.44129778del	GRCh37
NC_000011.8:g.44086354del	NCBI36
NG_007560.1:g.17680del , LRG_494:g.17680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.516del	ENSP00000342656.3:p.Ala173ArgfsTer?
ENST00000395673.8:c.516del	ENSP00000379032.4:p.Ala173ArgfsTer?
ENST00000531161.6:n.675del
ENST00000682359.1:c.516del	ENSP00000508226.1:p.Ala173ArgfsTer?
ENST00000682711.1:c.-544+12376del	ENSP00000506803.1:n.-544+12376del
ENST00000682815.1:c.516del	ENSP00000507234.1:p.Ala173ArgfsTer?
ENST00000682947.1:n.690del
ENST00000682993.1:c.516del	ENSP00000507580.1:p.Ala173ArgfsTer?
ENST00000683000.1:c.516del	ENSP00000508361.1:p.Ala173ArgfsTer?
ENST00000683299.1:n.933del
ENST00000683870.1:c.516del	ENSP00000507922.1:p.Ala173ArgfsTer?
ENST00000683881.1:n.3077del
ENST00000684039.1:c.516del	ENSP00000507677.1:p.Ala173ArgfsTer?
ENST00000684124.1:c.516del	ENSP00000508332.1:p.Ala173ArgfsTer?
ENST00000684533.1:c.516del	ENSP00000507915.1:p.Ala173ArgfsTer?
ENST00000533608.7:c.516del MANE Select	ENSP00000431173.2:p.Ala173ArgfsTer?
ENST00000343631.3:c.516del	ENSP00000342656.3:p.Ala173ArgfsTer?
ENST00000358681.8:c.516del	ENSP00000351509.4:p.Ala173ArgfsTer?
ENST00000395673.7:c.615del	ENSP00000379032.3:p.Ala206ArgfsTer?
ENST00000529186.1:n.214del
ENST00000533608.5:c.516del	ENSP00000431173.1:p.Ala173ArgfsTer?
NM_000401.3:c.615del , LRG_494t1:c.615del	NP_000392.3:p.Ala206ArgfsTer?
NM_001178083.1:c.516del	NP_001171554.1:p.Ala173ArgfsTer?
NM_207122.1:c.516del , LRG_494t2:c.516del	NP_997005.1:p.Ala173ArgfsTer?
XM_011519950.1:c.654del	XP_011518252.1:p.Ala219ArgfsTer?
XM_011519951.1:c.555del	XP_011518253.1:p.Ala186ArgfsTer?
XM_024448383.1:c.654del	XP_024304151.1:p.Ala219ArgfsTer?
NM_001178083.2:c.516del	NP_001171554.1:p.Ala173ArgfsTer?
NM_207122.2:c.516del MANE Select	NP_997005.1:p.Ala173ArgfsTer?
NM_001178083.3:c.516del	NP_001171554.1:p.Ala173ArgfsTer?
NM_001389628.1:c.516del	NP_001376557.1:p.Ala173ArgfsTer?
NM_001389630.1:c.516del	NP_001376559.1:p.Ala173ArgfsTer?