Canonical Allele Identifier: CA278577

Gene: EXT2

Linked Data

• ClinVar Variation Id: 2471
• ClinVar RCV Id: RCV000002575 ; RCV003415629
• dbSNP Id: rs864309636
• MyVariant Identifiers: chr11:g.44129716_44129719del (hg19) ; chr11:g.44129712_44129715del (hg19) ; chr11:g.44108166_44108169del (hg38) ; chr11:g.44108163_44108166del (hg38) ; chr11:g.44108162_44108165del (hg38)
• PubMed: PMID:8782816

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108166_44108169del , CM000673.2:g.44108166_44108169del	GRCh38
NC_000011.9:g.44129716_44129719del , CM000673.1:g.44129716_44129719del	GRCh37
NC_000011.8:g.44086292_44086295del	NCBI36
NG_007560.1:g.17618_17621del , LRG_494:g.17618_17621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.454_457del	ENSP00000342656.3:p.Val154ProfsTer?
ENST00000395673.8:c.454_457del	ENSP00000379032.4:p.Val154ProfsTer?
ENST00000531161.6:n.613_616del
ENST00000682359.1:c.454_457del	ENSP00000508226.1:p.Val154ProfsTer?
ENST00000682711.1:c.-544+12314_-544+12317del	ENSP00000506803.1:n.-544+12314_-544+12317del
ENST00000682815.1:c.454_457del	ENSP00000507234.1:p.Val154ProfsTer?
ENST00000682947.1:n.628_631del
ENST00000682993.1:c.454_457del	ENSP00000507580.1:p.Val154ProfsTer?
ENST00000683000.1:c.454_457del	ENSP00000508361.1:p.Val154ProfsTer?
ENST00000683299.1:n.871_874del
ENST00000683870.1:c.454_457del	ENSP00000507922.1:p.Val154ProfsTer?
ENST00000683881.1:n.3015_3018del
ENST00000684039.1:c.454_457del	ENSP00000507677.1:p.Val154ProfsTer?
ENST00000684124.1:c.454_457del	ENSP00000508332.1:p.Val154ProfsTer?
ENST00000684533.1:c.454_457del	ENSP00000507915.1:p.Val154ProfsTer?
ENST00000533608.7:c.454_457del MANE Select	ENSP00000431173.2:p.Val154ProfsTer?
ENST00000343631.3:c.454_457del	ENSP00000342656.3:p.Val154ProfsTer?
ENST00000358681.8:c.454_457del	ENSP00000351509.4:p.Val154ProfsTer?
ENST00000395673.7:c.553_556del	ENSP00000379032.3:p.Val187ProfsTer?
ENST00000529186.1:n.152_155del
ENST00000533608.5:c.454_457del	ENSP00000431173.1:p.Val154ProfsTer?
NM_000401.3:c.553_556del , LRG_494t1:c.553_556del	NP_000392.3:p.Val187ProfsTer?
NM_001178083.1:c.454_457del	NP_001171554.1:p.Val154ProfsTer?
NM_207122.1:c.454_457del , LRG_494t2:c.454_457del	NP_997005.1:p.Val154ProfsTer?
XM_011519950.1:c.592_595del	XP_011518252.1:p.Val200ProfsTer?
XM_011519951.1:c.493_496del	XP_011518253.1:p.Val167ProfsTer?
XM_024448383.1:c.592_595del	XP_024304151.1:p.Val200ProfsTer?
NM_001178083.2:c.454_457del	NP_001171554.1:p.Val154ProfsTer?
NM_207122.2:c.454_457del MANE Select	NP_997005.1:p.Val154ProfsTer?
NM_001178083.3:c.454_457del	NP_001171554.1:p.Val154ProfsTer?
NM_001389628.1:c.454_457del	NP_001376557.1:p.Val154ProfsTer?
NM_001389630.1:c.454_457del	NP_001376559.1:p.Val154ProfsTer?