Canonical Allele Identifier: CA2676856271
Gene: ADAMTS2 HGNC NCBI

Linked Data

gnomAD v4: 5-179129929-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129929C>A , CM000667.2:g.179129929C>A GRCh38
NC_000005.9:g.178556930C>A , CM000667.1:g.178556930C>A GRCh37
NC_000005.8:g.178489536C>A NCBI36
NG_023212.2:g.220400G>T
NG_023212.3:g.220400G>T

Transcript Alleles

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