Canonical Allele Identifier: CA3596311
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 353141
ClinVar RCV Id: RCV000278093 RCV000432760
dbSNP Id: rs2271213
ExAC: 5:178770759 C / G
gnomAD v2: 5-178770759-C-G
gnomAD v3: 5-179343758-C-G
gnomAD v4: 5-179343758-C-G
MyVariant Identifiers: chr5:g.178770759C>G (hg19) chr5:g.179343758C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179343758C>G , CM000667.2:g.179343758C>G GRCh38
NC_000005.9:g.178770759C>G , CM000667.1:g.178770759C>G GRCh37
NC_000005.8:g.178703365C>G NCBI36
NG_023212.2:g.6571G>C
NG_023212.3:g.6571G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.534+9G>C ENSP00000514008.1:n.534+9G>C
ENST00000251582.12:c.534+9G>C MANE Select ENSP00000251582.7:n.534+9G>C
ENST00000518335.3:c.534+9G>C ENSP00000489888.2:n.534+9G>C
ENST00000251582.11:c.534+9G>C ENSP00000251582.7:n.534+9G>C
ENST00000274609.5:c.534+9G>C ENSP00000274609.5:n.534+9G>C
NM_014244.4:c.534+9G>C NP_055059.2:n.534+9G>C
NM_021599.2:c.534+9G>C NP_067610.1:n.534+9G>C
NM_021599.3:c.534+9G>C NP_067610.1:n.534+9G>C
NM_014244.5:c.534+9G>C MANE Select NP_055059.2:n.534+9G>C
NM_021599.4:c.534+9G>C NP_067610.1:n.534+9G>C
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