Canonical Allele Identifier: CA5954909

Gene: EXT2

Linked Data

• dbSNP Id: rs572302586
• ExAC: 11:44129788 C / G
• gnomAD v2: 11-44129788-C-G
• gnomAD v4: 11-44108238-C-G
• MyVariant Identifiers: chr11:g.44129788C>G (hg19) ; chr11:g.44108238C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108238C>G , CM000673.2:g.44108238C>G	GRCh38
NC_000011.9:g.44129788C>G , CM000673.1:g.44129788C>G	GRCh37
NC_000011.8:g.44086364C>G	NCBI36
NG_007560.1:g.17690C>G , LRG_494:g.17690C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.526C>G	ENSP00000342656.3:p.Gln176Glu
ENST00000395673.8:c.526C>G	ENSP00000379032.4:p.Gln176Glu
ENST00000531161.6:n.685C>G
ENST00000682359.1:c.526C>G	ENSP00000508226.1:p.Gln176Glu
ENST00000682711.1:c.-544+12386C>G	ENSP00000506803.1:n.-544+12386C>G
ENST00000682815.1:c.526C>G	ENSP00000507234.1:p.Gln176Glu
ENST00000682947.1:n.700C>G
ENST00000682993.1:c.526C>G	ENSP00000507580.1:p.Gln176Glu
ENST00000683000.1:c.526C>G	ENSP00000508361.1:p.Gln176Glu
ENST00000683299.1:n.943C>G
ENST00000683870.1:c.526C>G	ENSP00000507922.1:p.Gln176Glu
ENST00000683881.1:n.3087C>G
ENST00000684039.1:c.526C>G	ENSP00000507677.1:p.Gln176Glu
ENST00000684124.1:c.526C>G	ENSP00000508332.1:p.Gln176Glu
ENST00000684533.1:c.526C>G	ENSP00000507915.1:p.Gln176Glu
ENST00000533608.7:c.526C>G MANE Select	ENSP00000431173.2:p.Gln176Glu
ENST00000343631.3:c.526C>G	ENSP00000342656.3:p.Gln176Glu
ENST00000358681.8:c.526C>G	ENSP00000351509.4:p.Gln176Glu
ENST00000395673.7:c.625C>G	ENSP00000379032.3:p.Gln209Glu
ENST00000529186.1:n.224C>G
ENST00000533608.5:c.526C>G	ENSP00000431173.1:p.Gln176Glu
NM_000401.3:c.625C>G , LRG_494t1:c.625C>G	NP_000392.3:p.Gln209Glu
NM_001178083.1:c.526C>G	NP_001171554.1:p.Gln176Glu
NM_207122.1:c.526C>G , LRG_494t2:c.526C>G	NP_997005.1:p.Gln176Glu
XM_011519950.1:c.664C>G	XP_011518252.1:p.Gln222Glu
XM_011519951.1:c.565C>G	XP_011518253.1:p.Gln189Glu
XM_024448383.1:c.664C>G	XP_024304151.1:p.Gln222Glu
NM_001178083.2:c.526C>G	NP_001171554.1:p.Gln176Glu
NM_207122.2:c.526C>G MANE Select	NP_997005.1:p.Gln176Glu
NM_001178083.3:c.526C>G	NP_001171554.1:p.Gln176Glu
NM_001389628.1:c.526C>G	NP_001376557.1:p.Gln176Glu
NM_001389630.1:c.526C>G	NP_001376559.1:p.Gln176Glu