Canonical Allele Identifier: CA5954863

Gene: EXT2

Linked Data

• ClinVar Variation Id: 767599
• ClinVar RCV Id: RCV002066254 ; RCV003970659
• dbSNP Id: rs115948531
• ExAC: 11:44129620 G / A
• gnomAD v2: 11-44129620-G-A
• gnomAD v3: 11-44108070-G-A
• gnomAD v4: 11-44108070-G-A
• MyVariant Identifiers: chr11:g.44129620G>A (hg19) ; chr11:g.44108070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44108070G>A , CM000673.2:g.44108070G>A	GRCh38
NC_000011.9:g.44129620G>A , CM000673.1:g.44129620G>A	GRCh37
NC_000011.8:g.44086196G>A	NCBI36
NG_007560.1:g.17522G>A , LRG_494:g.17522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.358G>A	ENSP00000342656.3:p.Val120Ile
ENST00000395673.8:c.358G>A	ENSP00000379032.4:p.Val120Ile
ENST00000531161.6:n.517G>A
ENST00000682359.1:c.358G>A	ENSP00000508226.1:p.Val120Ile
ENST00000682711.1:c.-544+12218G>A	ENSP00000506803.1:n.-544+12218G>A
ENST00000682815.1:c.358G>A	ENSP00000507234.1:p.Val120Ile
ENST00000682947.1:n.532G>A
ENST00000682993.1:c.358G>A	ENSP00000507580.1:p.Val120Ile
ENST00000683000.1:c.358G>A	ENSP00000508361.1:p.Val120Ile
ENST00000683299.1:n.775G>A
ENST00000683870.1:c.358G>A	ENSP00000507922.1:p.Val120Ile
ENST00000683881.1:n.2919G>A
ENST00000684039.1:c.358G>A	ENSP00000507677.1:p.Val120Ile
ENST00000684124.1:c.358G>A	ENSP00000508332.1:p.Val120Ile
ENST00000684533.1:c.358G>A	ENSP00000507915.1:p.Val120Ile
ENST00000533608.7:c.358G>A MANE Select	ENSP00000431173.2:p.Val120Ile
ENST00000343631.3:c.358G>A	ENSP00000342656.3:p.Val120Ile
ENST00000358681.8:c.358G>A	ENSP00000351509.4:p.Val120Ile
ENST00000395673.7:c.457G>A	ENSP00000379032.3:p.Val153Ile
ENST00000529186.1:n.56G>A
ENST00000533608.5:c.358G>A	ENSP00000431173.1:p.Val120Ile
NM_000401.3:c.457G>A , LRG_494t1:c.457G>A	NP_000392.3:p.Val153Ile
NM_001178083.1:c.358G>A	NP_001171554.1:p.Val120Ile
NM_207122.1:c.358G>A , LRG_494t2:c.358G>A	NP_997005.1:p.Val120Ile
XM_011519950.1:c.496G>A	XP_011518252.1:p.Val166Ile
XM_011519951.1:c.397G>A	XP_011518253.1:p.Val133Ile
XM_024448383.1:c.496G>A	XP_024304151.1:p.Val166Ile
NM_001178083.2:c.358G>A	NP_001171554.1:p.Val120Ile
NM_207122.2:c.358G>A MANE Select	NP_997005.1:p.Val120Ile
NM_001178083.3:c.358G>A	NP_001171554.1:p.Val120Ile
NM_001389628.1:c.358G>A	NP_001376557.1:p.Val120Ile
NM_001389630.1:c.358G>A	NP_001376559.1:p.Val120Ile