Canonical Allele Identifier: CA375402461

Gene: ADAMTSL2

Linked Data

• MyVariant Identifiers: chr9:g.136404932T>G (hg19) ; chr9:g.133539810T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133539810T>G , CM000671.2:g.133539810T>G	GRCh38
NC_000009.11:g.136404932T>G , CM000671.1:g.136404932T>G	GRCh37
NC_000009.10:g.135394753T>G	NCBI36
NG_009931.1:g.12647T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651351.2:c.349T>G MANE Select	ENSP00000498961.2:p.Cys117Gly
ENST00000354484.8:c.349T>G	ENSP00000346478.4:p.Cys117Gly
ENST00000393060.1:c.349T>G	ENSP00000376780.1:p.Cys117Gly
ENST00000393061.7:c.676T>G	ENSP00000376781.3:p.Cys226Gly
NM_001145320.1:c.349T>G	NP_001138792.1:p.Cys117Gly
NM_014694.3:c.349T>G	NP_055509.2:p.Cys117Gly
XM_005272237.2:c.676T>G	XP_005272294.1:p.Cys226Gly
XM_005272238.2:c.384T>G	XP_005272295.1:p.Ser128Arg
XM_005272239.2:c.349T>G	XP_005272296.1:p.Cys117Gly
XM_006717337.2:c.349T>G	XP_006717400.1:p.Cys117Gly
XM_011519241.1:c.237T>G	XP_011517543.1:p.Ser79Arg
XM_011519242.1:c.415T>G	XP_011517544.1:p.Cys139Gly
XM_005272237.3:c.676T>G	XP_005272294.1:p.Cys226Gly
XM_005272238.3:c.384T>G	XP_005272295.1:p.Ser128Arg
XM_011519241.2:c.564T>G	XP_011517543.2:p.Ser188Arg
XM_011519242.3:c.415T>G	XP_011517544.1:p.Cys139Gly
NM_014694.4:c.349T>G MANE Select	NP_055509.2:p.Cys117Gly
NM_001145320.2:c.349T>G	NP_001138792.1:p.Cys117Gly