Canonical Allele Identifier: CA2580074091
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2100531
ClinVar RCV Id: RCV003033512
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129945_179129950del , CM000667.2:g.179129945_179129950del GRCh38
NC_000005.9:g.178556946_178556951del , CM000667.1:g.178556946_178556951del GRCh37
NC_000005.8:g.178489552_178489557del NCBI36
NG_023212.2:g.220380_220385del
NG_023212.3:g.220380_220385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2440_2445del ENSP00000514008.1:p.Gly814_Thr815del
ENST00000251582.12:c.2440_2445del MANE Select ENSP00000251582.7:p.Gly814_Thr815del
ENST00000518335.3:c.2440_2445del ENSP00000489888.2:p.Gly814_Thr815del
ENST00000251582.11:c.2440_2445del ENSP00000251582.7:p.Gly814_Thr815del
NM_014244.4:c.2440_2445del NP_055059.2:p.Gly814_Thr815del
NM_014244.5:c.2440_2445del MANE Select NP_055059.2:p.Gly814_Thr815del
Search 100 bp 5'
Search 100 bp 3'