Canonical Allele Identifier: CA2580084100

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1700013
• ClinVar RCV Id: RCV002274278
• dbSNP Id: rs2135015566

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124954_44124955insGATGTCAGCATTCCTGTCTATAATCC , CM000673.2:g.44124954_44124955insGATGTCAGCATTCCTGTCTATAATCC	GRCh38
NC_000011.9:g.44146504_44146505insGATGTCAGCATTCCTGTCTATAATCC , CM000673.1:g.44146504_44146505insGATGTCAGCATTCCTGTCTATAATCC	GRCh37
NC_000011.8:g.44103080_44103081insGATGTCAGCATTCCTGTCTATAATCC	NCBI36
NG_007560.1:g.34406_34407insGATGTCAGCATTCCTGTCTATAATCC , LRG_494:g.34406_34407insGATGTCAGCATTCCTGTCTATAATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000342656.3:p.Gln304AspfsTer37
ENST00000395673.8:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000379032.4:p.Gln304AspfsTer37
ENST00000531161.6:n.1068_1069insGATGTCAGCATTCCTGTCTATAATCC
ENST00000682359.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000508226.1:p.Gln304AspfsTer?
ENST00000682711.1:c.-544+29102_-544+29103insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000506803.1:n.-544+29102_-544+29103insGATGTCAGCATTCCTGT...
ENST00000682815.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000507234.1:p.Gln304AspfsTer37
ENST00000682947.1:n.1083_1084insGATGTCAGCATTCCTGTCTATAATCC
ENST00000682993.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000507580.1:p.Gln304AspfsTer37
ENST00000683000.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000508361.1:p.Gln304AspfsTer37
ENST00000683299.1:n.1326_1327insGATGTCAGCATTCCTGTCTATAATCC
ENST00000683870.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000507922.1:p.Gln304AspfsTer37
ENST00000683881.1:n.3470_3471insGATGTCAGCATTCCTGTCTATAATCC
ENST00000684039.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000507677.1:p.Gln304AspfsTer37
ENST00000684124.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000508332.1:p.Gln304AspfsTer37
ENST00000684533.1:c.744-5091_744-5090insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000507915.1:n.744-5091_744-5090insGATGTCAGCATTCCTGTCTAT...
ENST00000533608.7:c.909_910insGATGTCAGCATTCCTGTCTATAATCC MANE Select	ENSP00000431173.2:p.Gln304AspfsTer37
ENST00000343631.3:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000342656.3:p.Gln304AspfsTer37
ENST00000358681.8:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000351509.4:p.Gln304AspfsTer37
ENST00000395673.7:c.1008_1009insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000379032.3:p.Gln337AspfsTer37
ENST00000531161.5:n.86_87insGATGTCAGCATTCCTGTCTATAATCC
ENST00000533608.5:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	ENSP00000431173.1:p.Gln304AspfsTer37
NM_000401.3:c.1008_1009insGATGTCAGCATTCCTGTCTATAATCC , LRG_494t1:c.1008_1009insGATGTCAGCATTCCTGTCTATAATCC	NP_000392.3:p.Gln337AspfsTer37
NM_001178083.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	NP_001171554.1:p.Gln304AspfsTer37
NM_207122.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC , LRG_494t2:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	NP_997005.1:p.Gln304AspfsTer37
XM_011519950.1:c.1047_1048insGATGTCAGCATTCCTGTCTATAATCC	XP_011518252.1:p.Gln350AspfsTer37
XM_011519951.1:c.948_949insGATGTCAGCATTCCTGTCTATAATCC	XP_011518253.1:p.Gln317AspfsTer37
XM_024448383.1:c.1047_1048insGATGTCAGCATTCCTGTCTATAATCC	XP_024304151.1:p.Gln350AspfsTer37
NM_001178083.2:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	NP_001171554.1:p.Gln304AspfsTer37
NM_207122.2:c.909_910insGATGTCAGCATTCCTGTCTATAATCC MANE Select	NP_997005.1:p.Gln304AspfsTer37
NM_001178083.3:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	NP_001171554.1:p.Gln304AspfsTer37
NM_001389628.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	NP_001376557.1:p.Gln304AspfsTer37
NM_001389630.1:c.909_910insGATGTCAGCATTCCTGTCTATAATCC	NP_001376559.1:p.Gln304AspfsTer37