Canonical Allele Identifier: CA1882725343
Community Standard Title: NM_014694.4(ADAMTSL2):c.2431G= (p.Gly811=)
Gene: ADAMTSL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133570346G= , CM000671.2:g.133570346G= GRCh38
NC_000009.11:g.136435468G= , CM000671.1:g.136435468G= GRCh37
NC_000009.10:g.135425289G= NCBI36
NG_009931.1:g.43183G=

Transcript Alleles

HGVS Amino-acid Change
NM_014694.4:c.2431G= MANE Select NP_055509.2:p.Gly811=
ENST00000651351.2:c.2431G= MANE Select ENSP00000498961.2:p.Gly811=
NM_001145320.1:c.2431G= NP_001138792.1:p.Gly811=
NM_001145320.2:c.2431G= NP_001138792.1:p.Gly811=
NM_014694.3:c.2431G= NP_055509.2:p.Gly811=
ENST00000354484.8:c.2431G= ENSP00000346478.4:p.Gly811=
ENST00000393060.1:c.2431G= ENSP00000376780.1:p.Gly811=
ENST00000393061.7:c.2758G= ENSP00000376781.3:p.Gly920=
XM_005272237.2:c.2758G= XP_005272294.1:p.Gly920=
XM_005272237.3:c.2758G= XP_005272294.1:p.Gly920=
XM_005272238.2:c.2461G= XP_005272295.1:p.Gly821=
XM_005272238.3:c.2461G= XP_005272295.1:p.Gly821=
XM_005272239.2:c.2431G= XP_005272296.1:p.Gly811=
XM_006717337.2:c.2431G= XP_006717400.1:p.Gly811=
XM_011519241.1:c.2314G= XP_011517543.1:p.Gly772=
XM_011519241.2:c.2641G= XP_011517543.2:p.Gly881=
XM_011519242.1:c.2497G= XP_011517544.1:p.Gly833=
XM_011519242.3:c.2497G= XP_011517544.1:p.Gly833=