Canonical Allele Identifier: CA2676856091
Gene: ADAMTS2 HGNC NCBI

Linked Data

gnomAD v4: 5-179129815-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129815A>C , CM000667.2:g.179129815A>C GRCh38
NC_000005.9:g.178556816A>C , CM000667.1:g.178556816A>C GRCh37
NC_000005.8:g.178489422A>C NCBI36
NG_023212.2:g.220514T>G
NG_023212.3:g.220514T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2457+117T>G ENSP00000514008.1:n.2457+117T>G
ENST00000251582.12:c.2457+117T>G MANE Select ENSP00000251582.7:n.2457+117T>G
ENST00000518335.3:c.2457+117T>G ENSP00000489888.2:n.2457+117T>G
ENST00000251582.11:c.2457+117T>G ENSP00000251582.7:n.2457+117T>G
NM_014244.4:c.2457+117T>G NP_055059.2:n.2457+117T>G
NM_014244.5:c.2457+117T>G MANE Select NP_055059.2:n.2457+117T>G
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