Canonical Allele Identifier: CA380180825

Gene: EXT2

Linked Data

• ClinVar Variation Id: 503618
• ClinVar RCV Id: RCV000599186 ; RCV001062683
• dbSNP Id: rs1057521132
• MyVariant Identifiers: chr11:g.44130834G>A (hg19) ; chr11:g.44109284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44109284G>A , CM000673.2:g.44109284G>A	GRCh38
NC_000011.9:g.44130834G>A , CM000673.1:g.44130834G>A	GRCh37
NC_000011.8:g.44087410G>A	NCBI36
NG_007560.1:g.18736G>A , LRG_494:g.18736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343631.4:c.626+1G>A	ENSP00000342656.3:n.626+1G>A
ENST00000395673.8:c.626+1G>A	ENSP00000379032.4:n.626+1G>A
ENST00000531161.6:n.785+1G>A
ENST00000682359.1:c.626+1G>A	ENSP00000508226.1:n.626+1G>A
ENST00000682711.1:c.-544+13432G>A	ENSP00000506803.1:n.-544+13432G>A
ENST00000682815.1:c.626+1G>A	ENSP00000507234.1:n.626+1G>A
ENST00000682947.1:n.800+1G>A
ENST00000682993.1:c.626+1G>A	ENSP00000507580.1:n.626+1G>A
ENST00000683000.1:c.626+1G>A	ENSP00000508361.1:n.626+1G>A
ENST00000683299.1:n.1043+1G>A
ENST00000683870.1:c.626+1G>A	ENSP00000507922.1:n.626+1G>A
ENST00000683881.1:n.3187+1G>A
ENST00000684039.1:c.626+1G>A	ENSP00000507677.1:n.626+1G>A
ENST00000684124.1:c.626+1G>A	ENSP00000508332.1:n.626+1G>A
ENST00000684533.1:c.626+1G>A	ENSP00000507915.1:n.626+1G>A
ENST00000533608.7:c.626+1G>A MANE Select	ENSP00000431173.2:n.626+1G>A
ENST00000343631.3:c.626+1G>A	ENSP00000342656.3:n.626+1G>A
ENST00000358681.8:c.626+1G>A	ENSP00000351509.4:n.626+1G>A
ENST00000395673.7:c.725+1G>A	ENSP00000379032.3:n.725+1G>A
ENST00000529186.1:n.324+1G>A
ENST00000533608.5:c.626+1G>A	ENSP00000431173.1:n.626+1G>A
NM_000401.3:c.725+1G>A , LRG_494t1:c.725+1G>A	NP_000392.3:n.725+1G>A
NM_001178083.1:c.626+1G>A	NP_001171554.1:n.626+1G>A
NM_207122.1:c.626+1G>A , LRG_494t2:c.626+1G>A	NP_997005.1:n.626+1G>A
XM_011519950.1:c.764+1G>A	XP_011518252.1:n.764+1G>A
XM_011519951.1:c.665+1G>A	XP_011518253.1:n.665+1G>A
XM_024448383.1:c.764+1G>A	XP_024304151.1:n.764+1G>A
NM_001178083.2:c.626+1G>A	NP_001171554.1:n.626+1G>A
NM_207122.2:c.626+1G>A MANE Select	NP_997005.1:n.626+1G>A
NM_001178083.3:c.626+1G>A	NP_001171554.1:n.626+1G>A
NM_001389628.1:c.626+1G>A	NP_001376557.1:n.626+1G>A
NM_001389630.1:c.626+1G>A	NP_001376559.1:n.626+1G>A