Canonical Allele Identifier: CA3596344
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 353143
ClinVar RCV Id: RCV000390308 RCV000425967
dbSNP Id: rs2271212
ExAC: 5:178770981 A / G
gnomAD v2: 5-178770981-A-G
gnomAD v3: 5-179343980-A-G
gnomAD v4: 5-179343980-A-G
MyVariant Identifiers: chr5:g.178770981A>G (hg19) chr5:g.179343980A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179343980A>G , CM000667.2:g.179343980A>G GRCh38
NC_000005.9:g.178770981A>G , CM000667.1:g.178770981A>G GRCh37
NC_000005.8:g.178703587A>G NCBI36
NG_023212.2:g.6349T>C
NG_023212.3:g.6349T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.321T>C ENSP00000514008.1:p.Ser107=
ENST00000251582.12:c.321T>C MANE Select ENSP00000251582.7:p.Ser107=
ENST00000518335.3:c.321T>C ENSP00000489888.2:p.Ser107=
ENST00000251582.11:c.321T>C ENSP00000251582.7:p.Ser107=
ENST00000274609.5:c.321T>C ENSP00000274609.5:p.Ser107=
NM_014244.4:c.321T>C NP_055059.2:p.Ser107=
NM_021599.2:c.321T>C NP_067610.1:p.Ser107=
NM_021599.3:c.321T>C NP_067610.1:p.Ser107=
NM_014244.5:c.321T>C MANE Select NP_055059.2:p.Ser107=
NM_021599.4:c.321T>C NP_067610.1:p.Ser107=
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