Canonical Allele Identifier: CA2695213852

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124859del , CM000673.2:g.44124859del	GRCh38
NC_000011.9:g.44146409del , CM000673.1:g.44146409del	GRCh37
NC_000011.8:g.44102985del	NCBI36
NG_007560.1:g.34311del , LRG_494:g.34311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.814del	ENSP00000342656.3:p.Leu272SerfsTer10
ENST00000395673.8:c.814del	ENSP00000379032.4:p.Leu272SerfsTer10
ENST00000531161.6:n.973del
ENST00000682359.1:c.814del	ENSP00000508226.1:p.Leu272SerfsTer10
ENST00000682711.1:c.-544+29007del	ENSP00000506803.1:n.-544+29007del
ENST00000682815.1:c.814del	ENSP00000507234.1:p.Leu272SerfsTer10
ENST00000682947.1:n.988del
ENST00000682993.1:c.814del	ENSP00000507580.1:p.Leu272SerfsTer10
ENST00000683000.1:c.814del	ENSP00000508361.1:p.Leu272SerfsTer10
ENST00000683299.1:n.1231del
ENST00000683870.1:c.814del	ENSP00000507922.1:p.Leu272SerfsTer10
ENST00000683881.1:n.3375del
ENST00000684039.1:c.814del	ENSP00000507677.1:p.Leu272SerfsTer10
ENST00000684124.1:c.814del	ENSP00000508332.1:p.Leu272SerfsTer10
ENST00000684533.1:c.744-5186del	ENSP00000507915.1:n.744-5186del
ENST00000533608.7:c.814del MANE Select	ENSP00000431173.2:p.Leu272SerfsTer10
ENST00000343631.3:c.814del	ENSP00000342656.3:p.Leu272SerfsTer10
ENST00000358681.8:c.814del	ENSP00000351509.4:p.Leu272SerfsTer10
ENST00000395673.7:c.913del	ENSP00000379032.3:p.Leu305SerfsTer10
ENST00000533608.5:c.814del	ENSP00000431173.1:p.Leu272SerfsTer10
NM_000401.3:c.913del , LRG_494t1:c.913del	NP_000392.3:p.Leu305SerfsTer10
NM_001178083.1:c.814del	NP_001171554.1:p.Leu272SerfsTer10
NM_207122.1:c.814del , LRG_494t2:c.814del	NP_997005.1:p.Leu272SerfsTer10
XM_011519950.1:c.952del	XP_011518252.1:p.Leu318SerfsTer10
XM_011519951.1:c.853del	XP_011518253.1:p.Leu285SerfsTer10
XM_024448383.1:c.952del	XP_024304151.1:p.Leu318SerfsTer10
NM_001178083.2:c.814del	NP_001171554.1:p.Leu272SerfsTer10
NM_207122.2:c.814del MANE Select	NP_997005.1:p.Leu272SerfsTer10
NM_001178083.3:c.814del	NP_001171554.1:p.Leu272SerfsTer10
NM_001389628.1:c.814del	NP_001376557.1:p.Leu272SerfsTer10
NM_001389630.1:c.814del	NP_001376559.1:p.Leu272SerfsTer10