Canonical Allele Identifier: CA2508886746

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124697_44124698insAGTGGGAAGGCT , CM000673.2:g.44124697_44124698insAGTGGGAAGGCT	GRCh38
NC_000011.9:g.44146247_44146248insAGTGGGAAGGCT , CM000673.1:g.44146247_44146248insAGTGGGAAGGCT	GRCh37
NC_000011.8:g.44102823_44102824insAGTGGGAAGGCT	NCBI36
NG_007560.1:g.34149_34150insAGTGGGAAGGCT , LRG_494:g.34149_34150insAGTGGGAAGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000342656.3:n.744-92_744-91insAGTGGGAAGGCT
ENST00000395673.8:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000379032.4:n.744-92_744-91insAGTGGGAAGGCT
ENST00000531161.6:n.903-92_903-91insAGTGGGAAGGCT
ENST00000682359.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000508226.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000682711.1:c.-544+28845_-544+28846insAGTGGGAAGGCT	ENSP00000506803.1:n.-544+28845_-544+28846insAGTGGGAAGGCT
ENST00000682815.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000507234.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000682947.1:n.918-92_918-91insAGTGGGAAGGCT
ENST00000682993.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000507580.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000683000.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000508361.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000683299.1:n.1161-92_1161-91insAGTGGGAAGGCT
ENST00000683870.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000507922.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000683881.1:n.3305-92_3305-91insAGTGGGAAGGCT
ENST00000684039.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000507677.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000684124.1:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000508332.1:n.744-92_744-91insAGTGGGAAGGCT
ENST00000684533.1:c.744-5348_744-5347insAGTGGGAAGGCT	ENSP00000507915.1:n.744-5348_744-5347insAGTGGGAAGGCT
ENST00000533608.7:c.744-92_744-91insAGTGGGAAGGCT MANE Select	ENSP00000431173.2:n.744-92_744-91insAGTGGGAAGGCT
ENST00000343631.3:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000342656.3:n.744-92_744-91insAGTGGGAAGGCT
ENST00000358681.8:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000351509.4:n.744-92_744-91insAGTGGGAAGGCT
ENST00000395673.7:c.843-92_843-91insAGTGGGAAGGCT	ENSP00000379032.3:n.843-92_843-91insAGTGGGAAGGCT
ENST00000533608.5:c.744-92_744-91insAGTGGGAAGGCT	ENSP00000431173.1:n.744-92_744-91insAGTGGGAAGGCT
NM_000401.3:c.843-92_843-91insAGTGGGAAGGCT , LRG_494t1:c.843-92_843-91insAGTGGGAAGGCT	NP_000392.3:n.843-92_843-91insAGTGGGAAGGCT
NM_001178083.1:c.744-92_744-91insAGTGGGAAGGCT	NP_001171554.1:n.744-92_744-91insAGTGGGAAGGCT
NM_207122.1:c.744-92_744-91insAGTGGGAAGGCT , LRG_494t2:c.744-92_744-91insAGTGGGAAGGCT	NP_997005.1:n.744-92_744-91insAGTGGGAAGGCT
XM_011519950.1:c.882-92_882-91insAGTGGGAAGGCT	XP_011518252.1:n.882-92_882-91insAGTGGGAAGGCT
XM_011519951.1:c.783-92_783-91insAGTGGGAAGGCT	XP_011518253.1:n.783-92_783-91insAGTGGGAAGGCT
XM_024448383.1:c.882-92_882-91insAGTGGGAAGGCT	XP_024304151.1:n.882-92_882-91insAGTGGGAAGGCT
NM_001178083.2:c.744-92_744-91insAGTGGGAAGGCT	NP_001171554.1:n.744-92_744-91insAGTGGGAAGGCT
NM_207122.2:c.744-92_744-91insAGTGGGAAGGCT MANE Select	NP_997005.1:n.744-92_744-91insAGTGGGAAGGCT
NM_001178083.3:c.744-92_744-91insAGTGGGAAGGCT	NP_001171554.1:n.744-92_744-91insAGTGGGAAGGCT
NM_001389628.1:c.744-92_744-91insAGTGGGAAGGCT	NP_001376557.1:n.744-92_744-91insAGTGGGAAGGCT
NM_001389630.1:c.744-92_744-91insAGTGGGAAGGCT	NP_001376559.1:n.744-92_744-91insAGTGGGAAGGCT