Canonical Allele Identifier: CA2695213789

Gene: EXT2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108164_44108174dup , CM000673.2:g.44108164_44108174dup	GRCh38
NC_000011.9:g.44129714_44129724dup , CM000673.1:g.44129714_44129724dup	GRCh37
NC_000011.8:g.44086290_44086300dup	NCBI36
NG_007560.1:g.17616_17626dup , LRG_494:g.17616_17626dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.452_462dup	ENSP00000342656.3:p.Pro155ValfsTer?
ENST00000395673.8:c.452_462dup	ENSP00000379032.4:p.Pro155ValfsTer?
ENST00000531161.6:n.611_621dup
ENST00000682359.1:c.452_462dup	ENSP00000508226.1:p.Pro155ValfsTer?
ENST00000682711.1:c.-544+12312_-544+12322dup	ENSP00000506803.1:n.-544+12312_-544+12322dup
ENST00000682815.1:c.452_462dup	ENSP00000507234.1:p.Pro155ValfsTer?
ENST00000682947.1:n.626_636dup
ENST00000682993.1:c.452_462dup	ENSP00000507580.1:p.Pro155ValfsTer?
ENST00000683000.1:c.452_462dup	ENSP00000508361.1:p.Pro155ValfsTer?
ENST00000683299.1:n.869_879dup
ENST00000683870.1:c.452_462dup	ENSP00000507922.1:p.Pro155ValfsTer?
ENST00000683881.1:n.3013_3023dup
ENST00000684039.1:c.452_462dup	ENSP00000507677.1:p.Pro155ValfsTer?
ENST00000684124.1:c.452_462dup	ENSP00000508332.1:p.Pro155ValfsTer?
ENST00000684533.1:c.452_462dup	ENSP00000507915.1:p.Pro155ValfsTer?
ENST00000533608.7:c.452_462dup MANE Select	ENSP00000431173.2:p.Pro155ValfsTer?
ENST00000343631.3:c.452_462dup	ENSP00000342656.3:p.Pro155ValfsTer?
ENST00000358681.8:c.452_462dup	ENSP00000351509.4:p.Pro155ValfsTer?
ENST00000395673.7:c.551_561dup	ENSP00000379032.3:p.Pro188ValfsTer?
ENST00000529186.1:n.150_160dup
ENST00000533608.5:c.452_462dup	ENSP00000431173.1:p.Pro155ValfsTer?
NM_000401.3:c.551_561dup , LRG_494t1:c.551_561dup	NP_000392.3:p.Pro188ValfsTer?
NM_001178083.1:c.452_462dup	NP_001171554.1:p.Pro155ValfsTer?
NM_207122.1:c.452_462dup , LRG_494t2:c.452_462dup	NP_997005.1:p.Pro155ValfsTer?
XM_011519950.1:c.590_600dup	XP_011518252.1:p.Pro201ValfsTer?
XM_011519951.1:c.491_501dup	XP_011518253.1:p.Pro168ValfsTer?
XM_024448383.1:c.590_600dup	XP_024304151.1:p.Pro201ValfsTer?
NM_001178083.2:c.452_462dup	NP_001171554.1:p.Pro155ValfsTer?
NM_207122.2:c.452_462dup MANE Select	NP_997005.1:p.Pro155ValfsTer?
NM_001178083.3:c.452_462dup	NP_001171554.1:p.Pro155ValfsTer?
NM_001389628.1:c.452_462dup	NP_001376557.1:p.Pro155ValfsTer?
NM_001389630.1:c.452_462dup	NP_001376559.1:p.Pro155ValfsTer?