Canonical Allele Identifier: CA916081632

Gene: EXT2

Linked Data

• ClinVar Variation Id: 854619
• ClinVar RCV Id: RCV001059704
• dbSNP Id: rs1954088614

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108171_44108174del , CM000673.2:g.44108171_44108174del	GRCh38
NC_000011.9:g.44129721_44129724del , CM000673.1:g.44129721_44129724del	GRCh37
NC_000011.8:g.44086297_44086300del	NCBI36
NG_007560.1:g.17623_17626del , LRG_494:g.17623_17626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.459_462del	ENSP00000342656.3:p.Val154ProfsTer?
ENST00000395673.8:c.459_462del	ENSP00000379032.4:p.Val154ProfsTer?
ENST00000531161.6:n.618_621del
ENST00000682359.1:c.459_462del	ENSP00000508226.1:p.Val154ProfsTer?
ENST00000682711.1:c.-544+12319_-544+12322del	ENSP00000506803.1:n.-544+12319_-544+12322del
ENST00000682815.1:c.459_462del	ENSP00000507234.1:p.Val154ProfsTer?
ENST00000682947.1:n.633_636del
ENST00000682993.1:c.459_462del	ENSP00000507580.1:p.Val154ProfsTer?
ENST00000683000.1:c.459_462del	ENSP00000508361.1:p.Val154ProfsTer?
ENST00000683299.1:n.876_879del
ENST00000683870.1:c.459_462del	ENSP00000507922.1:p.Val154ProfsTer?
ENST00000683881.1:n.3020_3023del
ENST00000684039.1:c.459_462del	ENSP00000507677.1:p.Val154ProfsTer?
ENST00000684124.1:c.459_462del	ENSP00000508332.1:p.Val154ProfsTer?
ENST00000684533.1:c.459_462del	ENSP00000507915.1:p.Val154ProfsTer?
ENST00000533608.7:c.459_462del MANE Select	ENSP00000431173.2:p.Val154ProfsTer?
ENST00000343631.3:c.459_462del	ENSP00000342656.3:p.Val154ProfsTer?
ENST00000358681.8:c.459_462del	ENSP00000351509.4:p.Val154ProfsTer?
ENST00000395673.7:c.558_561del	ENSP00000379032.3:p.Val187ProfsTer?
ENST00000529186.1:n.157_160del
ENST00000533608.5:c.459_462del	ENSP00000431173.1:p.Val154ProfsTer?
NM_000401.3:c.558_561del , LRG_494t1:c.558_561del	NP_000392.3:p.Val187ProfsTer?
NM_001178083.1:c.459_462del	NP_001171554.1:p.Val154ProfsTer?
NM_207122.1:c.459_462del , LRG_494t2:c.459_462del	NP_997005.1:p.Val154ProfsTer?
XM_011519950.1:c.597_600del	XP_011518252.1:p.Val200ProfsTer?
XM_011519951.1:c.498_501del	XP_011518253.1:p.Val167ProfsTer?
XM_024448383.1:c.597_600del	XP_024304151.1:p.Val200ProfsTer?
NM_001178083.2:c.459_462del	NP_001171554.1:p.Val154ProfsTer?
NM_207122.2:c.459_462del MANE Select	NP_997005.1:p.Val154ProfsTer?
NM_001178083.3:c.459_462del	NP_001171554.1:p.Val154ProfsTer?
NM_001389628.1:c.459_462del	NP_001376557.1:p.Val154ProfsTer?
NM_001389630.1:c.459_462del	NP_001376559.1:p.Val154ProfsTer?