Canonical Allele Identifier: CA2499220942

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1076816
• ClinVar RCV Id: RCV001390840
• dbSNP Id: rs2135014852

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124828_44124829del , CM000673.2:g.44124828_44124829del	GRCh38
NC_000011.9:g.44146378_44146379del , CM000673.1:g.44146378_44146379del	GRCh37
NC_000011.8:g.44102954_44102955del	NCBI36
NG_007560.1:g.34280_34281del , LRG_494:g.34280_34281del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.783_784del	ENSP00000342656.3:p.His262SerfsTer2
ENST00000395673.8:c.783_784del	ENSP00000379032.4:p.His262SerfsTer2
ENST00000531161.6:n.942_943del
ENST00000682359.1:c.783_784del	ENSP00000508226.1:p.His262SerfsTer2
ENST00000682711.1:c.-544+28976_-544+28977del	ENSP00000506803.1:n.-544+28976_-544+28977...
ENST00000682815.1:c.783_784del	ENSP00000507234.1:p.His262SerfsTer2
ENST00000682947.1:n.957_958del
ENST00000682993.1:c.783_784del	ENSP00000507580.1:p.His262SerfsTer2
ENST00000683000.1:c.783_784del	ENSP00000508361.1:p.His262SerfsTer2
ENST00000683299.1:n.1200_1201del
ENST00000683870.1:c.783_784del	ENSP00000507922.1:p.His262SerfsTer2
ENST00000683881.1:n.3344_3345del
ENST00000684039.1:c.783_784del	ENSP00000507677.1:p.His262SerfsTer2
ENST00000684124.1:c.783_784del	ENSP00000508332.1:p.His262SerfsTer2
ENST00000684533.1:c.744-5217_744-5216del	ENSP00000507915.1:n.744-5217_744-5216del
ENST00000533608.7:c.783_784del MANE Select	ENSP00000431173.2:p.His262SerfsTer2
ENST00000343631.3:c.783_784del	ENSP00000342656.3:p.His262SerfsTer2
ENST00000358681.8:c.783_784del	ENSP00000351509.4:p.His262SerfsTer2
ENST00000395673.7:c.882_883del	ENSP00000379032.3:p.His295SerfsTer2
ENST00000533608.5:c.783_784del	ENSP00000431173.1:p.His262SerfsTer2
NM_000401.3:c.882_883del , LRG_494t1:c.882_883del	NP_000392.3:p.His295SerfsTer2
NM_001178083.1:c.783_784del	NP_001171554.1:p.His262SerfsTer2
NM_207122.1:c.783_784del , LRG_494t2:c.783_784del	NP_997005.1:p.His262SerfsTer2
XM_011519950.1:c.921_922del	XP_011518252.1:p.His308SerfsTer2
XM_011519951.1:c.822_823del	XP_011518253.1:p.His275SerfsTer2
XM_024448383.1:c.921_922del	XP_024304151.1:p.His308SerfsTer2
NM_001178083.2:c.783_784del	NP_001171554.1:p.His262SerfsTer2
NM_207122.2:c.783_784del MANE Select	NP_997005.1:p.His262SerfsTer2
NM_001178083.3:c.783_784del	NP_001171554.1:p.His262SerfsTer2
NM_001389628.1:c.783_784del	NP_001376557.1:p.His262SerfsTer2
NM_001389630.1:c.783_784del	NP_001376559.1:p.His262SerfsTer2