Canonical Allele Identifier: CA3595569
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2050104
ClinVar RCV Id: RCV002914350
dbSNP Id: rs767768165
ExAC: 5:178556983 G / A
gnomAD v2: 5-178556983-G-A
gnomAD v3: 5-179129982-G-A
gnomAD v4: 5-179129982-G-A
MyVariant Identifiers: chr5:g.178556983G>A (hg19) chr5:g.179129982G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129982G>A , CM000667.2:g.179129982G>A GRCh38
NC_000005.9:g.178556983G>A , CM000667.1:g.178556983G>A GRCh37
NC_000005.8:g.178489589G>A NCBI36
NG_023212.2:g.220347C>T
NG_023212.3:g.220347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2407C>T ENSP00000514008.1:p.Arg803Trp
ENST00000251582.12:c.2407C>T MANE Select ENSP00000251582.7:p.Arg803Trp
ENST00000518335.3:c.2407C>T ENSP00000489888.2:p.Arg803Trp
ENST00000251582.11:c.2407C>T ENSP00000251582.7:p.Arg803Trp
NM_014244.4:c.2407C>T NP_055059.2:p.Arg803Trp
NM_014244.5:c.2407C>T MANE Select NP_055059.2:p.Arg803Trp
Search 100 bp 5'
Search 100 bp 3'