Canonical Allele Identifier: CA067237

Gene: EXT2

Linked Data

• PubMed: PMID:26246518

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.[44107972T>G;44107995C>T] , CM000673.2:g.[44107972T>G;44107995C>T]	GRCh38
NC_000011.9:g.[44129522T>G;44129545C>T] , CM000673.1:g.[44129522T>G;44129545C>T]	GRCh37
NC_000011.8:g.[44086098T>G;44086121C>T]	NCBI36
NG_007560.1:g.[17424T>G;17447C>T] , LRG_494:g.[17424T>G;17447C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.[260T>G;283C>T]	ENSP00000342656.3:p.[Met87Arg;Arg95Cys]
ENST00000395673.8:c.[260T>G;283C>T]	ENSP00000379032.4:p.[Met87Arg;Arg95Cys]
ENST00000531161.6:n.[419T>G;442C>T]
ENST00000682359.1:c.[260T>G;283C>T]	ENSP00000508226.1:p.[Met87Arg;Arg95Cys]
ENST00000682711.1:c.[-544+12120T>G;-544+12143C>T]	ENSP00000506803.1:n.[-544+12120T>G;-544+12143C>T]
ENST00000682815.1:c.[260T>G;283C>T]	ENSP00000507234.1:p.[Met87Arg;Arg95Cys]
ENST00000682947.1:n.[434T>G;457C>T]
ENST00000682993.1:c.[260T>G;283C>T]	ENSP00000507580.1:p.[Met87Arg;Arg95Cys]
ENST00000683000.1:c.[260T>G;283C>T]	ENSP00000508361.1:p.[Met87Arg;Arg95Cys]
ENST00000683299.1:n.[677T>G;700C>T]
ENST00000683870.1:c.[260T>G;283C>T]	ENSP00000507922.1:p.[Met87Arg;Arg95Cys]
ENST00000683881.1:n.[2821T>G;2844C>T]
ENST00000684039.1:c.[260T>G;283C>T]	ENSP00000507677.1:p.[Met87Arg;Arg95Cys]
ENST00000684124.1:c.[260T>G;283C>T]	ENSP00000508332.1:p.[Met87Arg;Arg95Cys]
ENST00000684533.1:c.[260T>G;283C>T]	ENSP00000507915.1:p.[Met87Arg;Arg95Cys]
ENST00000533608.7:c.[260T>G;283C>T] MANE Select	ENSP00000431173.2:p.[Met87Arg;Arg95Cys]
ENST00000343631.3:c.[260T>G;283C>T]	ENSP00000342656.3:p.[Met87Arg;Arg95Cys]
ENST00000358681.8:c.[260T>G;283C>T]	ENSP00000351509.4:p.[Met87Arg;Arg95Cys]
ENST00000395673.7:c.[359T>G;382C>T]	ENSP00000379032.3:p.[Met120Arg;Arg128Cys]
ENST00000527014.1:c.[260T>G;283C>T]	ENSP00000434716.1:p.[Met87Arg;Arg95Cys]
ENST00000533608.5:c.[260T>G;283C>T]	ENSP00000431173.1:p.[Met87Arg;Arg95Cys]
NM_000401.3:c.[359T>G;382C>T] , LRG_494t1:c.[359T>G;382C>T]	NP_000392.3:p.[Met120Arg;Arg128Cys]
NM_001178083.1:c.[260T>G;283C>T]	NP_001171554.1:p.[Met87Arg;Arg95Cys]
NM_207122.1:c.[260T>G;283C>T] , LRG_494t2:c.[260T>G;283C>T]	NP_997005.1:p.[Met87Arg;Arg95Cys]
XM_011519950.1:c.[398T>G;421C>T]	XP_011518252.1:p.[Met133Arg;Arg141Cys]
XM_011519951.1:c.[299T>G;322C>T]	XP_011518253.1:p.[Met100Arg;Arg108Cys]
XM_024448383.1:c.[398T>G;421C>T]	XP_024304151.1:p.[Met133Arg;Arg141Cys]
NM_001178083.2:c.[260T>G;283C>T]	NP_001171554.1:p.[Met87Arg;Arg95Cys]
NM_207122.2:c.[260T>G;283C>T] MANE Select	NP_997005.1:p.[Met87Arg;Arg95Cys]
NM_001178083.3:c.[260T>G;283C>T]	NP_001171554.1:p.[Met87Arg;Arg95Cys]
NM_001389628.1:c.[260T>G;283C>T]	NP_001376557.1:p.[Met87Arg;Arg95Cys]
NM_001389630.1:c.[260T>G;283C>T]	NP_001376559.1:p.[Met87Arg;Arg95Cys]