Canonical Allele Identifier: CA159176

Gene: EXT2

Linked Data

• ClinVar Variation Id: 134218
• ClinVar RCV Id: RCV000120891 ; RCV000728389 ; RCV000785179 ; RCV001086749 ; RCV003965013
• dbSNP Id: rs138187791
• ExAC: 11:44193165 G / A
• gnomAD v2: 11-44193165-G-A
• gnomAD v3: 11-44171615-G-A
• gnomAD v4: 11-44171615-G-A
• MyVariant Identifiers: chr11:g.44193165G>A (hg19) ; chr11:g.44171615G>A (hg38)
• PubMed: PMID:23439489 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44171615G>A , CM000673.2:g.44171615G>A	GRCh38
NC_000011.9:g.44193165G>A , CM000673.1:g.44193165G>A	GRCh37
NC_000011.8:g.44149741G>A	NCBI36
NG_007560.1:g.81067G>A , LRG_494:g.81067G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.1178G>A	ENSP00000342656.3:p.Arg393Gln
ENST00000395673.8:c.1178G>A	ENSP00000379032.4:p.Arg393Gln
ENST00000682359.1:c.944G>A	ENSP00000508226.1:p.Arg315Gln
ENST00000682711.1:c.-539G>A	ENSP00000506803.1:n.-539G>A
ENST00000682815.1:c.1084G>A	ENSP00000507234.1:p.Gly362Ser
ENST00000682947.1:n.1352G>A
ENST00000682993.1:c.1178G>A	ENSP00000507580.1:p.Arg393Gln
ENST00000683000.1:c.1178G>A	ENSP00000508361.1:p.Arg393Gln
ENST00000683299.1:n.1595G>A
ENST00000683870.1:c.1084G>A	ENSP00000507922.1:p.Gly362Ser
ENST00000683881.1:n.3739G>A
ENST00000684039.1:c.1178G>A	ENSP00000507677.1:p.Arg393Gln
ENST00000684124.1:c.1178G>A	ENSP00000508332.1:p.Arg393Gln
ENST00000684533.1:c.842G>A	ENSP00000507915.1:p.Arg281Gln
ENST00000533608.7:c.1178G>A MANE Select	ENSP00000431173.2:p.Arg393Gln
ENST00000343631.3:c.1178G>A	ENSP00000342656.3:p.Arg393Gln
ENST00000358681.8:c.1267-59G>A	ENSP00000351509.4:n.1267-59G>A
ENST00000395673.7:c.1277G>A	ENSP00000379032.3:p.Arg426Gln
ENST00000525559.1:n.152G>A
ENST00000531161.5:n.355G>A
ENST00000533608.5:c.1178G>A	ENSP00000431173.1:p.Arg393Gln
ENST00000534048.1:n.101G>A
NM_000401.3:c.1277G>A , LRG_494t1:c.1277G>A	NP_000392.3:p.Arg426Gln
NM_001178083.1:c.1267-59G>A	NP_001171554.1:n.1267-59G>A
NM_207122.1:c.1178G>A , LRG_494t2:c.1178G>A	NP_997005.1:p.Arg393Gln
XM_011519950.1:c.1316G>A	XP_011518252.1:p.Arg439Gln
XM_011519951.1:c.1217G>A	XP_011518253.1:p.Arg406Gln
XM_024448383.1:c.1316G>A	XP_024304151.1:p.Arg439Gln
NM_001178083.2:c.1267-59G>A	NP_001171554.1:n.1267-59G>A
NM_207122.2:c.1178G>A MANE Select	NP_997005.1:p.Arg393Gln
NM_001178083.3:c.1267-59G>A	NP_001171554.1:n.1267-59G>A
NM_001389628.1:c.1178G>A	NP_001376557.1:p.Arg393Gln
NM_001389630.1:c.1178G>A	NP_001376559.1:p.Arg393Gln