Canonical Allele Identifier: CA3595505
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1600274
ClinVar RCV Id: RCV002132229
dbSNP Id: rs745450151
ExAC: 5:178554950 A / AC
gnomAD v2: 5-178554950-A-AC
gnomAD v3: 5-179127949-A-AC
gnomAD v4: 5-179127949-A-AC
MyVariant Identifiers: chr5:g.178554950_178554951insC (hg19) chr5:g.179127949_179127950insC (hg38)
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Genomic Alleles

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

Transcript Alleles

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