Canonical Allele Identifier: CA2676855563
Gene: ADAMTS2 HGNC NCBI

Linked Data

gnomAD v4: 5-179127952-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179127952C>G , CM000667.2:g.179127952C>G GRCh38
NC_000005.9:g.178554953C>G , CM000667.1:g.178554953C>G GRCh37
NC_000005.8:g.178487559C>G NCBI36
NG_023212.2:g.222377G>C
NG_023212.3:g.222377G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2617+7G>C ENSP00000514008.1:n.2617+7G>C
ENST00000251582.12:c.2617+7G>C MANE Select ENSP00000251582.7:n.2617+7G>C
ENST00000518335.3:c.2617+7G>C ENSP00000489888.2:n.2617+7G>C
ENST00000251582.11:c.2617+7G>C ENSP00000251582.7:n.2617+7G>C
NM_014244.4:c.2617+7G>C NP_055059.2:n.2617+7G>C
NM_014244.5:c.2617+7G>C MANE Select NP_055059.2:n.2617+7G>C
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