Canonical Allele Identifier: CA221467803

Gene: EXT2

Linked Data

• ClinVar Variation Id: 1441952
• ClinVar RCV Id: RCV001941387
• dbSNP Id: rs201895861
• gnomAD v2: 11-44146374-G-T
• gnomAD v4: 11-44124824-G-T
• MyVariant Identifiers: chr11:g.44146374G>T (hg19) ; chr11:g.44124824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44124824G>T , CM000673.2:g.44124824G>T	GRCh38
NC_000011.9:g.44146374G>T , CM000673.1:g.44146374G>T	GRCh37
NC_000011.8:g.44102950G>T	NCBI36
NG_007560.1:g.34276G>T , LRG_494:g.34276G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343631.4:c.779G>T	ENSP00000342656.3:p.Gly260Val
ENST00000395673.8:c.779G>T	ENSP00000379032.4:p.Gly260Val
ENST00000531161.6:n.938G>T
ENST00000682359.1:c.779G>T	ENSP00000508226.1:p.Gly260Val
ENST00000682711.1:c.-544+28972G>T	ENSP00000506803.1:n.-544+28972G>T
ENST00000682815.1:c.779G>T	ENSP00000507234.1:p.Gly260Val
ENST00000682947.1:n.953G>T
ENST00000682993.1:c.779G>T	ENSP00000507580.1:p.Gly260Val
ENST00000683000.1:c.779G>T	ENSP00000508361.1:p.Gly260Val
ENST00000683299.1:n.1196G>T
ENST00000683870.1:c.779G>T	ENSP00000507922.1:p.Gly260Val
ENST00000683881.1:n.3340G>T
ENST00000684039.1:c.779G>T	ENSP00000507677.1:p.Gly260Val
ENST00000684124.1:c.779G>T	ENSP00000508332.1:p.Gly260Val
ENST00000684533.1:c.744-5221G>T	ENSP00000507915.1:n.744-5221G>T
ENST00000533608.7:c.779G>T MANE Select	ENSP00000431173.2:p.Gly260Val
ENST00000343631.3:c.779G>T	ENSP00000342656.3:p.Gly260Val
ENST00000358681.8:c.779G>T	ENSP00000351509.4:p.Gly260Val
ENST00000395673.7:c.878G>T	ENSP00000379032.3:p.Gly293Val
ENST00000533608.5:c.779G>T	ENSP00000431173.1:p.Gly260Val
NM_000401.3:c.878G>T , LRG_494t1:c.878G>T	NP_000392.3:p.Gly293Val
NM_001178083.1:c.779G>T	NP_001171554.1:p.Gly260Val
NM_207122.1:c.779G>T , LRG_494t2:c.779G>T	NP_997005.1:p.Gly260Val
XM_011519950.1:c.917G>T	XP_011518252.1:p.Gly306Val
XM_011519951.1:c.818G>T	XP_011518253.1:p.Gly273Val
XM_024448383.1:c.917G>T	XP_024304151.1:p.Gly306Val
NM_001178083.2:c.779G>T	NP_001171554.1:p.Gly260Val
NM_207122.2:c.779G>T MANE Select	NP_997005.1:p.Gly260Val
NM_001178083.3:c.779G>T	NP_001171554.1:p.Gly260Val
NM_001389628.1:c.779G>T	NP_001376557.1:p.Gly260Val
NM_001389630.1:c.779G>T	NP_001376559.1:p.Gly260Val