Canonical Allele Identifier: CA133044740
Gene: ADAMTS2 HGNC NCBI

Linked Data

dbSNP Id: rs1046631681
gnomAD v2: 5-178570789-T-C
gnomAD v3: 5-179143788-T-C
gnomAD v4: 5-179143788-T-C
MyVariant Identifiers: chr5:g.178570789T>C (hg19) chr5:g.179143788T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179143788T>C , CM000667.2:g.179143788T>C GRCh38
NC_000005.9:g.178570789T>C , CM000667.1:g.178570789T>C GRCh37
NC_000005.8:g.178503395T>C NCBI36
NG_023212.2:g.206541A>G
NG_023212.3:g.206541A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.1630-3753A>G ENSP00000514008.1:n.1630-3753A>G
ENST00000251582.12:c.1630-3753A>G MANE Select ENSP00000251582.7:n.1630-3753A>G
ENST00000518335.3:c.1630-3753A>G ENSP00000489888.2:n.1630-3753A>G
ENST00000251582.11:c.1630-3753A>G ENSP00000251582.7:n.1630-3753A>G
NM_014244.4:c.1630-3753A>G NP_055059.2:n.1630-3753A>G
NM_014244.5:c.1630-3753A>G MANE Select NP_055059.2:n.1630-3753A>G
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