Canonical Allele Identifier: CA375402410

Gene: ADAMTSL2

Linked Data

• gnomAD v4: 9-133539803-G-T
• MyVariant Identifiers: chr9:g.136404925G>T (hg19) ; chr9:g.133539803G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133539803G>T , CM000671.2:g.133539803G>T	GRCh38
NC_000009.11:g.136404925G>T , CM000671.1:g.136404925G>T	GRCh37
NC_000009.10:g.135394746G>T	NCBI36
NG_009931.1:g.12640G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651351.2:c.342G>T MANE Select	ENSP00000498961.2:p.Glu114Asp
ENST00000354484.8:c.342G>T	ENSP00000346478.4:p.Glu114Asp
ENST00000393060.1:c.342G>T	ENSP00000376780.1:p.Glu114Asp
ENST00000393061.7:c.669G>T	ENSP00000376781.3:p.Glu223Asp
NM_001145320.1:c.342G>T	NP_001138792.1:p.Glu114Asp
NM_014694.3:c.342G>T	NP_055509.2:p.Glu114Asp
XM_005272237.2:c.669G>T	XP_005272294.1:p.Glu223Asp
XM_005272238.2:c.377G>T	XP_005272295.1:p.Arg126Met
XM_005272239.2:c.342G>T	XP_005272296.1:p.Glu114Asp
XM_006717337.2:c.342G>T	XP_006717400.1:p.Glu114Asp
XM_011519241.1:c.230G>T	XP_011517543.1:p.Arg77Met
XM_011519242.1:c.408G>T	XP_011517544.1:p.Glu136Asp
XM_005272237.3:c.669G>T	XP_005272294.1:p.Glu223Asp
XM_005272238.3:c.377G>T	XP_005272295.1:p.Arg126Met
XM_011519241.2:c.557G>T	XP_011517543.2:p.Arg186Met
XM_011519242.3:c.408G>T	XP_011517544.1:p.Glu136Asp
NM_014694.4:c.342G>T MANE Select	NP_055509.2:p.Glu114Asp
NM_001145320.2:c.342G>T	NP_001138792.1:p.Glu114Asp