Canonical Allele Identifier: CA1139661901

Gene: EXT2

Linked Data

• ClinVar Variation Id: 963513
• ClinVar RCV Id: RCV001237549
• dbSNP Id: rs1954411719

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44126828_44126840del , CM000673.2:g.44126828_44126840del	GRCh38
NC_000011.9:g.44148378_44148390del , CM000673.1:g.44148378_44148390del	GRCh37
NC_000011.8:g.44104954_44104966del	NCBI36
NG_007560.1:g.36280_36292del , LRG_494:g.36280_36292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.952_964del	ENSP00000342656.3:p.Cys318ValfsTer10
ENST00000395673.8:c.952_964del	ENSP00000379032.4:p.Cys318ValfsTer10
ENST00000531161.6:n.1111_1123del
ENST00000682359.1:c.939+1844_939+1856del	ENSP00000508226.1:n.939+1844_939+1856del
ENST00000682711.1:c.-544+30976_-544+30988del	ENSP00000506803.1:n.-544+30976_-544+30988del
ENST00000682815.1:c.952_964del	ENSP00000507234.1:p.Cys318ValfsTer10
ENST00000682947.1:n.1126_1138del
ENST00000682993.1:c.952_964del	ENSP00000507580.1:p.Cys318ValfsTer10
ENST00000683000.1:c.952_964del	ENSP00000508361.1:p.Cys318ValfsTer10
ENST00000683299.1:n.1369_1381del
ENST00000683870.1:c.952_964del	ENSP00000507922.1:p.Cys318ValfsTer10
ENST00000683881.1:n.3513_3525del
ENST00000684039.1:c.952_964del	ENSP00000507677.1:p.Cys318ValfsTer10
ENST00000684124.1:c.952_964del	ENSP00000508332.1:p.Cys318ValfsTer10
ENST00000684533.1:c.744-3217_744-3205del	ENSP00000507915.1:n.744-3217_744-3205del
ENST00000533608.7:c.952_964del MANE Select	ENSP00000431173.2:p.Cys318ValfsTer10
ENST00000343631.3:c.952_964del	ENSP00000342656.3:p.Cys318ValfsTer10
ENST00000358681.8:c.952_964del	ENSP00000351509.4:p.Cys318ValfsTer10
ENST00000395673.7:c.1051_1063del	ENSP00000379032.3:p.Cys351ValfsTer10
ENST00000531161.5:n.129_141del
ENST00000533608.5:c.952_964del	ENSP00000431173.1:p.Cys318ValfsTer10
NM_000401.3:c.1051_1063del , LRG_494t1:c.1051_1063del	NP_000392.3:p.Cys351ValfsTer10
NM_001178083.1:c.952_964del	NP_001171554.1:p.Cys318ValfsTer10
NM_207122.1:c.952_964del , LRG_494t2:c.952_964del	NP_997005.1:p.Cys318ValfsTer10
XM_011519950.1:c.1090_1102del	XP_011518252.1:p.Cys364ValfsTer10
XM_011519951.1:c.991_1003del	XP_011518253.1:p.Cys331ValfsTer10
XM_024448383.1:c.1090_1102del	XP_024304151.1:p.Cys364ValfsTer10
NM_001178083.2:c.952_964del	NP_001171554.1:p.Cys318ValfsTer10
NM_207122.2:c.952_964del MANE Select	NP_997005.1:p.Cys318ValfsTer10
NM_001178083.3:c.952_964del	NP_001171554.1:p.Cys318ValfsTer10
NM_001389628.1:c.952_964del	NP_001376557.1:p.Cys318ValfsTer10
NM_001389630.1:c.952_964del	NP_001376559.1:p.Cys318ValfsTer10