Canonical Allele Identifier: CA1882727621
Community Standard Title: NM_014694.4(ADAMTSL2):c.338G= (p.Arg113=)
Gene: ADAMTSL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133539799G= , CM000671.2:g.133539799G= GRCh38
NC_000009.11:g.136404921G= , CM000671.1:g.136404921G= GRCh37
NC_000009.10:g.135394742G= NCBI36
NG_009931.1:g.12636G=

Transcript Alleles

HGVS Amino-acid Change
NM_014694.4:c.338G= MANE Select NP_055509.2:p.Arg113=
ENST00000651351.2:c.338G= MANE Select ENSP00000498961.2:p.Arg113=
NM_001145320.1:c.338G= NP_001138792.1:p.Arg113=
NM_001145320.2:c.338G= NP_001138792.1:p.Arg113=
NM_014694.3:c.338G= NP_055509.2:p.Arg113=
ENST00000354484.8:c.338G= ENSP00000346478.4:p.Arg113=
ENST00000393060.1:c.338G= ENSP00000376780.1:p.Arg113=
ENST00000393061.7:c.665G= ENSP00000376781.3:p.Arg222=
XM_005272237.2:c.665G= XP_005272294.1:p.Arg222=
XM_005272237.3:c.665G= XP_005272294.1:p.Arg222=
XM_005272238.2:c.373G= XP_005272295.1:p.Ala125=
XM_005272238.3:c.373G= XP_005272295.1:p.Ala125=
XM_005272239.2:c.338G= XP_005272296.1:p.Arg113=
XM_006717337.2:c.338G= XP_006717400.1:p.Arg113=
XM_011519241.1:c.226G= XP_011517543.1:p.Ala76=
XM_011519241.2:c.553G= XP_011517543.2:p.Ala185=
XM_011519242.1:c.404G= XP_011517544.1:p.Arg135=
XM_011519242.3:c.404G= XP_011517544.1:p.Arg135=