Canonical Allele Identifier: CA5312452

Gene: ADAMTSL2

Linked Data

• ClinVar Variation Id: 365571
• ClinVar RCV Id: RCV000381678 ; RCV003422371 ; RCV003950296
• dbSNP Id: rs145897018
• ExAC: 9:136401892 G / A
• gnomAD v2: 9-136401892-G-A
• gnomAD v3: 9-133536770-G-A
• gnomAD v4: 9-133536770-G-A
• MyVariant Identifiers: chr9:g.136401892G>A (hg19) ; chr9:g.133536770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133536770G>A , CM000671.2:g.133536770G>A	GRCh38
NC_000009.11:g.136401892G>A , CM000671.1:g.136401892G>A	GRCh37
NC_000009.10:g.135391713G>A	NCBI36
NG_009931.1:g.9607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651351.2:c.58G>A MANE Select	ENSP00000498961.2:p.Val20Ile
ENST00000354484.8:c.58G>A	ENSP00000346478.4:p.Val20Ile
ENST00000393060.1:c.58G>A	ENSP00000376780.1:p.Val20Ile
ENST00000393061.7:c.385G>A	ENSP00000376781.3:p.Val129Ile
NM_001145320.1:c.58G>A	NP_001138792.1:p.Val20Ile
NM_014694.3:c.58G>A	NP_055509.2:p.Val20Ile
XM_005272237.2:c.385G>A	XP_005272294.1:p.Val129Ile
XM_005272238.2:c.236G>A	XP_005272295.1:p.Cys79Tyr
XM_005272239.2:c.58G>A	XP_005272296.1:p.Val20Ile
XM_006717337.2:c.58G>A	XP_006717400.1:p.Val20Ile
XM_011519241.1:c.58G>A	XP_011517543.1:p.Val20Ile
XM_011519242.1:c.236G>A	XP_011517544.1:p.Cys79Tyr
XM_005272237.3:c.385G>A	XP_005272294.1:p.Val129Ile
XM_005272238.3:c.236G>A	XP_005272295.1:p.Cys79Tyr
XM_011519241.2:c.385G>A	XP_011517543.2:p.Val129Ile
XM_011519242.3:c.236G>A	XP_011517544.1:p.Cys79Tyr
NM_014694.4:c.58G>A MANE Select	NP_055509.2:p.Val20Ile
NM_001145320.2:c.58G>A	NP_001138792.1:p.Val20Ile