Canonical Allele Identifier: CA10624318
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 353037
ClinVar RCV Id: RCV000279870
dbSNP Id: rs886060480
MyVariant Identifiers: chr5:g.178537940_178537942del (hg19) chr5:g.179110939_179110941del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179110944_179110946del , CM000667.2:g.179110944_179110946del GRCh38
NC_000005.9:g.178537945_178537947del , CM000667.1:g.178537945_178537947del GRCh37
NC_000005.8:g.178470551_178470553del NCBI36
NG_023212.2:g.239388_239390del
NG_023212.3:g.239388_239390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251582.12:c.*2926_*2928del MANE Select ENSP00000251582.7:n.*2926_*2928del
ENST00000251582.11:c.*2926_*2928del ENSP00000251582.7:n.*2926_*2928del
NM_014244.4:c.*2926_*2928del NP_055059.2:n.*2926_*2928del
NM_014244.5:c.*2926_*2928del MANE Select NP_055059.2:n.*2926_*2928del
Search 100 bp 5'
Search 100 bp 3'