Canonical Allele Identifier: CA5955028

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1943931
• ClinVar RCV Id: RCV002663048
• dbSNP Id: rs760147479
• ExAC: 11:44146493 T / TGCCACAAGCACC
• gnomAD v2: 11-44146493-T-TGCCACAAGCACC
• gnomAD v4: 11-44124943-T-TGCCACAAGCACC
• MyVariant Identifiers: chr11:g.44146493_44146494insGCCACAAGCACC (hg19) ; chr11:g.44124943_44124944insGCCACAAGCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124944_44124955dup , CM000673.2:g.44124944_44124955dup	GRCh38
NC_000011.9:g.44146494_44146505dup , CM000673.1:g.44146494_44146505dup	GRCh37
NC_000011.8:g.44103070_44103081dup	NCBI36
NG_007560.1:g.34396_34407dup , LRG_494:g.34396_34407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.899_910dup	ENSP00000342656.3:p.His303_Gln304insArgHisLysHis
ENST00000395673.8:c.899_910dup	ENSP00000379032.4:p.His303_Gln304insArgHisLysHis
ENST00000531161.6:n.1058_1069dup
ENST00000682359.1:c.899_910dup	ENSP00000508226.1:p.His303_Gln304insArgHisLysHis
ENST00000682711.1:c.-544+29092_-544+29103dup	ENSP00000506803.1:n.-544+29092_-544+29103dup
ENST00000682815.1:c.899_910dup	ENSP00000507234.1:p.His303_Gln304insArgHisLysHis
ENST00000682947.1:n.1073_1084dup
ENST00000682993.1:c.899_910dup	ENSP00000507580.1:p.His303_Gln304insArgHisLysHis
ENST00000683000.1:c.899_910dup	ENSP00000508361.1:p.His303_Gln304insArgHisLysHis
ENST00000683299.1:n.1316_1327dup
ENST00000683870.1:c.899_910dup	ENSP00000507922.1:p.His303_Gln304insArgHisLysHis
ENST00000683881.1:n.3460_3471dup
ENST00000684039.1:c.899_910dup	ENSP00000507677.1:p.His303_Gln304insArgHisLysHis
ENST00000684124.1:c.899_910dup	ENSP00000508332.1:p.His303_Gln304insArgHisLysHis
ENST00000684533.1:c.744-5101_744-5090dup	ENSP00000507915.1:n.744-5101_744-5090dup
ENST00000533608.7:c.899_910dup MANE Select	ENSP00000431173.2:p.His303_Gln304insArgHisLysHis
ENST00000343631.3:c.899_910dup	ENSP00000342656.3:p.His303_Gln304insArgHisLysHis
ENST00000358681.8:c.899_910dup	ENSP00000351509.4:p.His303_Gln304insArgHisLysHis
ENST00000395673.7:c.998_1009dup	ENSP00000379032.3:p.His336_Gln337insArgHisLysHis
ENST00000531161.5:n.76_87dup
ENST00000533608.5:c.899_910dup	ENSP00000431173.1:p.His303_Gln304insArgHisLysHis
NM_000401.3:c.998_1009dup , LRG_494t1:c.998_1009dup	NP_000392.3:p.His336_Gln337insArgHisLysHis
NM_001178083.1:c.899_910dup	NP_001171554.1:p.His303_Gln304insArgHisLysHis
NM_207122.1:c.899_910dup , LRG_494t2:c.899_910dup	NP_997005.1:p.His303_Gln304insArgHisLysHis
XM_011519950.1:c.1037_1048dup	XP_011518252.1:p.His349_Gln350insArgHisLysHis
XM_011519951.1:c.938_949dup	XP_011518253.1:p.His316_Gln317insArgHisLysHis
XM_024448383.1:c.1037_1048dup	XP_024304151.1:p.His349_Gln350insArgHisLysHis
NM_001178083.2:c.899_910dup	NP_001171554.1:p.His303_Gln304insArgHisLysHis
NM_207122.2:c.899_910dup MANE Select	NP_997005.1:p.His303_Gln304insArgHisLysHis
NM_001178083.3:c.899_910dup	NP_001171554.1:p.His303_Gln304insArgHisLysHis
NM_001389628.1:c.899_910dup	NP_001376557.1:p.His303_Gln304insArgHisLysHis
NM_001389630.1:c.899_910dup	NP_001376559.1:p.His303_Gln304insArgHisLysHis