Canonical Allele Identifier: CA1129760115

Gene: ADAMTSL2

Linked Data

• dbSNP Id: rs2131097957
• gnomAD v3: 9-133539712-A-C
• gnomAD v4: 9-133539712-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133539712A>C , CM000671.2:g.133539712A>C	GRCh38
NC_000009.11:g.136404834A>C , CM000671.1:g.136404834A>C	GRCh37
NC_000009.10:g.135394655A>C	NCBI36
NG_009931.1:g.12549A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000651351.2:c.310-59A>C MANE Select	ENSP00000498961.2:n.310-59A>C
ENST00000354484.8:c.310-59A>C	ENSP00000346478.4:n.310-59A>C
ENST00000393060.1:c.310-59A>C	ENSP00000376780.1:n.310-59A>C
ENST00000393061.7:c.637-59A>C	ENSP00000376781.3:n.637-59A>C
NM_001145320.1:c.310-59A>C	NP_001138792.1:n.310-59A>C
NM_014694.3:c.310-59A>C	NP_055509.2:n.310-59A>C
XM_005272237.2:c.637-59A>C	XP_005272294.1:n.637-59A>C
XM_005272238.2:c.345-59A>C	XP_005272295.1:n.345-59A>C
XM_005272239.2:c.310-59A>C	XP_005272296.1:n.310-59A>C
XM_006717337.2:c.310-59A>C	XP_006717400.1:n.310-59A>C
XM_011519241.1:c.198-59A>C	XP_011517543.1:n.198-59A>C
XM_011519242.1:c.376-59A>C	XP_011517544.1:n.376-59A>C
XM_005272237.3:c.637-59A>C	XP_005272294.1:n.637-59A>C
XM_005272238.3:c.345-59A>C	XP_005272295.1:n.345-59A>C
XM_011519241.2:c.525-59A>C	XP_011517543.2:n.525-59A>C
XM_011519242.3:c.376-59A>C	XP_011517544.1:n.376-59A>C
NM_014694.4:c.310-59A>C MANE Select	NP_055509.2:n.310-59A>C
NM_001145320.2:c.310-59A>C	NP_001138792.1:n.310-59A>C