Canonical Allele Identifier: CA2769633652
Gene: ADAMTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129851_179129852insCAT , CM000667.2:g.179129851_179129852insCAT GRCh38
NC_000005.9:g.178556852_178556853insCAT , CM000667.1:g.178556852_178556853insCAT GRCh37
NC_000005.8:g.178489458_178489459insCAT NCBI36
NG_023212.2:g.220477_220478insATG
NG_023212.3:g.220477_220478insATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2457+80_2457+81insATG ENSP00000514008.1:n.2457+80_2457+81insATG
ENST00000251582.12:c.2457+80_2457+81insATG MANE Select ENSP00000251582.7:n.2457+80_2457+81insATG
ENST00000518335.3:c.2457+80_2457+81insATG ENSP00000489888.2:n.2457+80_2457+81insATG
ENST00000251582.11:c.2457+80_2457+81insATG ENSP00000251582.7:n.2457+80_2457+81insATG
NM_014244.4:c.2457+80_2457+81insATG NP_055059.2:n.2457+80_2457+81insATG
NM_014244.5:c.2457+80_2457+81insATG MANE Select NP_055059.2:n.2457+80_2457+81insATG