Canonical Allele Identifier: CA380179909

Gene: EXT2

Linked Data

• ClinVar Variation Id: 2073963
• ClinVar RCV Id: RCV002975955
• dbSNP Id: rs1954081996
• gnomAD v4: 11-44107948-A-G
• MyVariant Identifiers: chr11:g.44129498A>G (hg19) ; chr11:g.44107948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44107948A>G , CM000673.2:g.44107948A>G	GRCh38
NC_000011.9:g.44129498A>G , CM000673.1:g.44129498A>G	GRCh37
NC_000011.8:g.44086074A>G	NCBI36
NG_007560.1:g.17400A>G , LRG_494:g.17400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.236A>G	ENSP00000342656.3:p.Glu79Gly
ENST00000395673.8:c.236A>G	ENSP00000379032.4:p.Glu79Gly
ENST00000531161.6:n.395A>G
ENST00000682359.1:c.236A>G	ENSP00000508226.1:p.Glu79Gly
ENST00000682711.1:c.-544+12096A>G	ENSP00000506803.1:n.-544+12096A>G
ENST00000682815.1:c.236A>G	ENSP00000507234.1:p.Glu79Gly
ENST00000682947.1:n.410A>G
ENST00000682993.1:c.236A>G	ENSP00000507580.1:p.Glu79Gly
ENST00000683000.1:c.236A>G	ENSP00000508361.1:p.Glu79Gly
ENST00000683299.1:n.653A>G
ENST00000683870.1:c.236A>G	ENSP00000507922.1:p.Glu79Gly
ENST00000683881.1:n.2797A>G
ENST00000684039.1:c.236A>G	ENSP00000507677.1:p.Glu79Gly
ENST00000684124.1:c.236A>G	ENSP00000508332.1:p.Glu79Gly
ENST00000684533.1:c.236A>G	ENSP00000507915.1:p.Glu79Gly
ENST00000533608.7:c.236A>G MANE Select	ENSP00000431173.2:p.Glu79Gly
ENST00000343631.3:c.236A>G	ENSP00000342656.3:p.Glu79Gly
ENST00000358681.8:c.236A>G	ENSP00000351509.4:p.Glu79Gly
ENST00000395673.7:c.335A>G	ENSP00000379032.3:p.Glu112Gly
ENST00000527014.1:c.236A>G	ENSP00000434716.1:p.Glu79Gly
ENST00000533608.5:c.236A>G	ENSP00000431173.1:p.Glu79Gly
NM_000401.3:c.335A>G , LRG_494t1:c.335A>G	NP_000392.3:p.Glu112Gly
NM_001178083.1:c.236A>G	NP_001171554.1:p.Glu79Gly
NM_207122.1:c.236A>G , LRG_494t2:c.236A>G	NP_997005.1:p.Glu79Gly
XM_011519950.1:c.374A>G	XP_011518252.1:p.Glu125Gly
XM_011519951.1:c.275A>G	XP_011518253.1:p.Glu92Gly
XM_024448383.1:c.374A>G	XP_024304151.1:p.Glu125Gly
NM_001178083.2:c.236A>G	NP_001171554.1:p.Glu79Gly
NM_207122.2:c.236A>G MANE Select	NP_997005.1:p.Glu79Gly
NM_001178083.3:c.236A>G	NP_001171554.1:p.Glu79Gly
NM_001389628.1:c.236A>G	NP_001376557.1:p.Glu79Gly
NM_001389630.1:c.236A>G	NP_001376559.1:p.Glu79Gly