Canonical Allele Identifier: CA1882727635

Gene: ADAMTSL2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133539801G= , CM000671.2:g.133539801G=	GRCh38
NC_000009.11:g.136404923G= , CM000671.1:g.136404923G=	GRCh37
NC_000009.10:g.135394744G=	NCBI36
NG_009931.1:g.12638G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651351.2:c.340G= MANE Select	ENSP00000498961.2:p.Glu114=
ENST00000354484.8:c.340G=	ENSP00000346478.4:p.Glu114=
ENST00000393060.1:c.340G=	ENSP00000376780.1:p.Glu114=
ENST00000393061.7:c.667G=	ENSP00000376781.3:p.Glu223=
NM_001145320.1:c.340G=	NP_001138792.1:p.Glu114=
NM_014694.3:c.340G=	NP_055509.2:p.Glu114=
XM_005272237.2:c.667G=	XP_005272294.1:p.Glu223=
XM_005272238.2:c.375G=	XP_005272295.1:p.Ala125=
XM_005272239.2:c.340G=	XP_005272296.1:p.Glu114=
XM_006717337.2:c.340G=	XP_006717400.1:p.Glu114=
XM_011519241.1:c.228G=	XP_011517543.1:p.Ala76=
XM_011519242.1:c.406G=	XP_011517544.1:p.Glu136=
XM_005272237.3:c.667G=	XP_005272294.1:p.Glu223=
XM_005272238.3:c.375G=	XP_005272295.1:p.Ala125=
XM_011519241.2:c.555G=	XP_011517543.2:p.Ala185=
XM_011519242.3:c.406G=	XP_011517544.1:p.Glu136=
NM_014694.4:c.340G= MANE Select	NP_055509.2:p.Glu114=
NM_001145320.2:c.340G=	NP_001138792.1:p.Glu114=