Canonical Allele Identifier: CA2573146276

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1386232
• ClinVar RCV Id: RCV001881370
• dbSNP Id: rs2134967717

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108110_44108114del , CM000673.2:g.44108110_44108114del	GRCh38
NC_000011.9:g.44129660_44129664del , CM000673.1:g.44129660_44129664del	GRCh37
NC_000011.8:g.44086236_44086240del	NCBI36
NG_007560.1:g.17562_17566del , LRG_494:g.17562_17566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.398_402del	ENSP00000342656.3:p.Leu133HisfsTer7
ENST00000395673.8:c.398_402del	ENSP00000379032.4:p.Leu133HisfsTer7
ENST00000531161.6:n.557_561del
ENST00000682359.1:c.398_402del	ENSP00000508226.1:p.Leu133HisfsTer7
ENST00000682711.1:c.-544+12258_-544+12262del	ENSP00000506803.1:n.-544+12258_-544+12262del
ENST00000682815.1:c.398_402del	ENSP00000507234.1:p.Leu133HisfsTer7
ENST00000682947.1:n.572_576del
ENST00000682993.1:c.398_402del	ENSP00000507580.1:p.Leu133HisfsTer7
ENST00000683000.1:c.398_402del	ENSP00000508361.1:p.Leu133HisfsTer7
ENST00000683299.1:n.815_819del
ENST00000683870.1:c.398_402del	ENSP00000507922.1:p.Leu133HisfsTer7
ENST00000683881.1:n.2959_2963del
ENST00000684039.1:c.398_402del	ENSP00000507677.1:p.Leu133HisfsTer7
ENST00000684124.1:c.398_402del	ENSP00000508332.1:p.Leu133HisfsTer7
ENST00000684533.1:c.398_402del	ENSP00000507915.1:p.Leu133HisfsTer7
ENST00000533608.7:c.398_402del MANE Select	ENSP00000431173.2:p.Leu133HisfsTer7
ENST00000343631.3:c.398_402del	ENSP00000342656.3:p.Leu133HisfsTer7
ENST00000358681.8:c.398_402del	ENSP00000351509.4:p.Leu133HisfsTer7
ENST00000395673.7:c.497_501del	ENSP00000379032.3:p.Leu166HisfsTer7
ENST00000529186.1:n.96_100del
ENST00000533608.5:c.398_402del	ENSP00000431173.1:p.Leu133HisfsTer7
NM_000401.3:c.497_501del , LRG_494t1:c.497_501del	NP_000392.3:p.Leu166HisfsTer7
NM_001178083.1:c.398_402del	NP_001171554.1:p.Leu133HisfsTer7
NM_207122.1:c.398_402del , LRG_494t2:c.398_402del	NP_997005.1:p.Leu133HisfsTer7
XM_011519950.1:c.536_540del	XP_011518252.1:p.Leu179HisfsTer7
XM_011519951.1:c.437_441del	XP_011518253.1:p.Leu146HisfsTer7
XM_024448383.1:c.536_540del	XP_024304151.1:p.Leu179HisfsTer7
NM_001178083.2:c.398_402del	NP_001171554.1:p.Leu133HisfsTer7
NM_207122.2:c.398_402del MANE Select	NP_997005.1:p.Leu133HisfsTer7
NM_001178083.3:c.398_402del	NP_001171554.1:p.Leu133HisfsTer7
NM_001389628.1:c.398_402del	NP_001376557.1:p.Leu133HisfsTer7
NM_001389630.1:c.398_402del	NP_001376559.1:p.Leu133HisfsTer7