Canonical Allele Identifier: CA2695213877

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126949_44126952delinsCT , CM000673.2:g.44126949_44126952delinsCT	GRCh38
NC_000011.9:g.44148499_44148502delinsCT , CM000673.1:g.44148499_44148502delinsCT	GRCh37
NC_000011.8:g.44105075_44105078delinsCT	NCBI36
NG_007560.1:g.36401_36404delinsCT , LRG_494:g.36401_36404delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.1073_1076delinsCT	ENSP00000342656.3:p.Trp358SerfsTer28
ENST00000395673.8:c.1073_1076delinsCT	ENSP00000379032.4:p.Trp358SerfsTer28
ENST00000531161.6:n.1232_1235delinsCT
ENST00000682359.1:c.939+1965_939+1968delinsCT	ENSP00000508226.1:n.939+1965_939+1968delinsCT
ENST00000682711.1:c.-544+31097_-544+31100delinsCT	ENSP00000506803.1:n.-544+31097_-544+31100delinsCT
ENST00000682815.1:c.1073_1076delinsCT	ENSP00000507234.1:p.Trp358SerfsTer?
ENST00000682947.1:n.1247_1250delinsCT
ENST00000682993.1:c.1073_1076delinsCT	ENSP00000507580.1:p.Trp358SerfsTer28
ENST00000683000.1:c.1073_1076delinsCT	ENSP00000508361.1:p.Trp358SerfsTer28
ENST00000683299.1:n.1490_1493delinsCT
ENST00000683870.1:c.1073_1076delinsCT	ENSP00000507922.1:p.Trp358SerfsTer?
ENST00000683881.1:n.3634_3637delinsCT
ENST00000684039.1:c.1073_1076delinsCT	ENSP00000507677.1:p.Trp358SerfsTer28
ENST00000684124.1:c.1073_1076delinsCT	ENSP00000508332.1:p.Trp358SerfsTer28
ENST00000684533.1:c.744-3096_744-3093delinsCT	ENSP00000507915.1:n.744-3096_744-3093delinsCT
ENST00000533608.7:c.1073_1076delinsCT MANE Select	ENSP00000431173.2:p.Trp358SerfsTer28
ENST00000343631.3:c.1073_1076delinsCT	ENSP00000342656.3:p.Trp358SerfsTer28
ENST00000358681.8:c.1073_1076delinsCT	ENSP00000351509.4:p.Trp358SerfsTer28
ENST00000395673.7:c.1172_1175delinsCT	ENSP00000379032.3:p.Trp391SerfsTer28
ENST00000525559.1:n.47_50delinsCT
ENST00000531161.5:n.250_253delinsCT
ENST00000533608.5:c.1073_1076delinsCT	ENSP00000431173.1:p.Trp358SerfsTer28
NM_000401.3:c.1172_1175delinsCT , LRG_494t1:c.1172_1175delinsCT	NP_000392.3:p.Trp391SerfsTer28
NM_001178083.1:c.1073_1076delinsCT	NP_001171554.1:p.Trp358SerfsTer28
NM_207122.1:c.1073_1076delinsCT , LRG_494t2:c.1073_1076delinsCT	NP_997005.1:p.Trp358SerfsTer28
XM_011519950.1:c.1211_1214delinsCT	XP_011518252.1:p.Trp404SerfsTer28
XM_011519951.1:c.1112_1115delinsCT	XP_011518253.1:p.Trp371SerfsTer28
XM_024448383.1:c.1211_1214delinsCT	XP_024304151.1:p.Trp404SerfsTer28
NM_001178083.2:c.1073_1076delinsCT	NP_001171554.1:p.Trp358SerfsTer28
NM_207122.2:c.1073_1076delinsCT MANE Select	NP_997005.1:p.Trp358SerfsTer28
NM_001178083.3:c.1073_1076delinsCT	NP_001171554.1:p.Trp358SerfsTer28
NM_001389628.1:c.1073_1076delinsCT	NP_001376557.1:p.Trp358SerfsTer28
NM_001389630.1:c.1073_1076delinsCT	NP_001376559.1:p.Trp358SerfsTer28