Canonical Allele Identifier: CA3595562
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1119849
ClinVar RCV Id: RCV001449463
dbSNP Id: rs762314815
ExAC: 5:178556960 G / T
gnomAD v2: 5-178556960-G-T
gnomAD v4: 5-179129959-G-T
MyVariant Identifiers: chr5:g.178556960G>T (hg19) chr5:g.179129959G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129959G>T , CM000667.2:g.179129959G>T GRCh38
NC_000005.9:g.178556960G>T , CM000667.1:g.178556960G>T GRCh37
NC_000005.8:g.178489566G>T NCBI36
NG_023212.2:g.220370C>A
NG_023212.3:g.220370C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2430C>A ENSP00000514008.1:p.Gly810=
ENST00000251582.12:c.2430C>A MANE Select ENSP00000251582.7:p.Gly810=
ENST00000518335.3:c.2430C>A ENSP00000489888.2:p.Gly810=
ENST00000251582.11:c.2430C>A ENSP00000251582.7:p.Gly810=
NM_014244.4:c.2430C>A NP_055059.2:p.Gly810=
NM_014244.5:c.2430C>A MANE Select NP_055059.2:p.Gly810=
Search 100 bp 5'
Search 100 bp 3'