Canonical Allele Identifier: CA2695213764

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107861_44107862insA , CM000673.2:g.44107861_44107862insA	GRCh38
NC_000011.9:g.44129411_44129412insA , CM000673.1:g.44129411_44129412insA	GRCh37
NC_000011.8:g.44085987_44085988insA	NCBI36
NG_007560.1:g.17313_17314insA , LRG_494:g.17313_17314insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.149_150insA	ENSP00000342656.3:p.Glu51ArgfsTer5
ENST00000395673.8:c.149_150insA	ENSP00000379032.4:p.Glu51ArgfsTer5
ENST00000531161.6:n.308_309insA
ENST00000682359.1:c.149_150insA	ENSP00000508226.1:p.Glu51ArgfsTer5
ENST00000682711.1:c.-544+12009_-544+12010insA	ENSP00000506803.1:n.-544+12009_-544+12010insA
ENST00000682815.1:c.149_150insA	ENSP00000507234.1:p.Glu51ArgfsTer5
ENST00000682947.1:n.323_324insA
ENST00000682993.1:c.149_150insA	ENSP00000507580.1:p.Glu51ArgfsTer5
ENST00000683000.1:c.149_150insA	ENSP00000508361.1:p.Glu51ArgfsTer5
ENST00000683299.1:n.566_567insA
ENST00000683870.1:c.149_150insA	ENSP00000507922.1:p.Glu51ArgfsTer5
ENST00000683881.1:n.2710_2711insA
ENST00000684039.1:c.149_150insA	ENSP00000507677.1:p.Glu51ArgfsTer5
ENST00000684124.1:c.149_150insA	ENSP00000508332.1:p.Glu51ArgfsTer5
ENST00000684533.1:c.149_150insA	ENSP00000507915.1:p.Glu51ArgfsTer5
ENST00000533608.7:c.149_150insA MANE Select	ENSP00000431173.2:p.Glu51ArgfsTer5
ENST00000343631.3:c.149_150insA	ENSP00000342656.3:p.Glu51ArgfsTer5
ENST00000358681.8:c.149_150insA	ENSP00000351509.4:p.Glu51ArgfsTer5
ENST00000395673.7:c.248_249insA	ENSP00000379032.3:p.Glu84ArgfsTer5
ENST00000527014.1:c.149_150insA	ENSP00000434716.1:p.Glu51ArgfsTer5
ENST00000533608.5:c.149_150insA	ENSP00000431173.1:p.Glu51ArgfsTer5
NM_000401.3:c.248_249insA , LRG_494t1:c.248_249insA	NP_000392.3:p.Glu84ArgfsTer5
NM_001178083.1:c.149_150insA	NP_001171554.1:p.Glu51ArgfsTer5
NM_207122.1:c.149_150insA , LRG_494t2:c.149_150insA	NP_997005.1:p.Glu51ArgfsTer5
XM_011519950.1:c.287_288insA	XP_011518252.1:p.Glu97ArgfsTer5
XM_011519951.1:c.188_189insA	XP_011518253.1:p.Glu64ArgfsTer5
XM_024448383.1:c.287_288insA	XP_024304151.1:p.Glu97ArgfsTer5
NM_001178083.2:c.149_150insA	NP_001171554.1:p.Glu51ArgfsTer5
NM_207122.2:c.149_150insA MANE Select	NP_997005.1:p.Glu51ArgfsTer5
NM_001178083.3:c.149_150insA	NP_001171554.1:p.Glu51ArgfsTer5
NM_001389628.1:c.149_150insA	NP_001376557.1:p.Glu51ArgfsTer5
NM_001389630.1:c.149_150insA	NP_001376559.1:p.Glu51ArgfsTer5