Canonical Allele Identifier: CA362423861
Gene: ADAMTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129946T>G , CM000667.2:g.179129946T>G GRCh38
NC_000005.9:g.178556947T>G , CM000667.1:g.178556947T>G GRCh37
NC_000005.8:g.178489553T>G NCBI36
NG_023212.2:g.220383A>C
NG_023212.3:g.220383A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2443A>C ENSP00000514008.1:p.Thr815Pro
ENST00000251582.12:c.2443A>C MANE Select ENSP00000251582.7:p.Thr815Pro
ENST00000518335.3:c.2443A>C ENSP00000489888.2:p.Thr815Pro
ENST00000251582.11:c.2443A>C ENSP00000251582.7:p.Thr815Pro
NM_014244.4:c.2443A>C NP_055059.2:p.Thr815Pro
NM_014244.5:c.2443A>C MANE Select NP_055059.2:p.Thr815Pro