Canonical Allele Identifier: CA2499217795
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1149310
ClinVar RCV Id: RCV001489489
dbSNP Id: rs745450151
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179127954del , CM000667.2:g.179127954del GRCh38
NC_000005.9:g.178554955del , CM000667.1:g.178554955del GRCh37
NC_000005.8:g.178487561del NCBI36
NG_023212.2:g.222379del
NG_023212.3:g.222379del

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2617+9del ENSP00000514008.1:n.2617+9del
ENST00000251582.12:c.2617+9del MANE Select ENSP00000251582.7:n.2617+9del
ENST00000518335.3:c.2617+9del ENSP00000489888.2:n.2617+9del
ENST00000251582.11:c.2617+9del ENSP00000251582.7:n.2617+9del
NM_014244.4:c.2617+9del NP_055059.2:n.2617+9del
NM_014244.5:c.2617+9del MANE Select NP_055059.2:n.2617+9del
Search 100 bp 5'
Search 100 bp 3'