Canonical Allele Identifier: CA375402403

Gene: ADAMTSL2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651351.2:c.340G>T MANE Select	ENSP00000498961.2:p.Glu114Ter
ENST00000354484.8:c.340G>T	ENSP00000346478.4:p.Glu114Ter
ENST00000393060.1:c.340G>T	ENSP00000376780.1:p.Glu114Ter
ENST00000393061.7:c.667G>T	ENSP00000376781.3:p.Glu223Ter
NM_001145320.1:c.340G>T	NP_001138792.1:p.Glu114Ter
NM_014694.3:c.340G>T	NP_055509.2:p.Glu114Ter
XM_005272237.2:c.667G>T	XP_005272294.1:p.Glu223Ter
XM_005272238.2:c.375G>T	XP_005272295.1:p.Ala125=
XM_005272239.2:c.340G>T	XP_005272296.1:p.Glu114Ter
XM_006717337.2:c.340G>T	XP_006717400.1:p.Glu114Ter
XM_011519241.1:c.228G>T	XP_011517543.1:p.Ala76=
XM_011519242.1:c.406G>T	XP_011517544.1:p.Glu136Ter
XM_005272237.3:c.667G>T	XP_005272294.1:p.Glu223Ter
XM_005272238.3:c.375G>T	XP_005272295.1:p.Ala125=
XM_011519241.2:c.555G>T	XP_011517543.2:p.Ala185=
XM_011519242.3:c.406G>T	XP_011517544.1:p.Glu136Ter
NM_014694.4:c.340G>T MANE Select	NP_055509.2:p.Glu114Ter
NM_001145320.2:c.340G>T	NP_001138792.1:p.Glu114Ter