Canonical Allele Identifier: CA2676855530
Gene: ADAMTS2 HGNC NCBI

Linked Data

gnomAD v4: 5-179127934-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179127934G>T , CM000667.2:g.179127934G>T GRCh38
NC_000005.9:g.178554935G>T , CM000667.1:g.178554935G>T GRCh37
NC_000005.8:g.178487541G>T NCBI36
NG_023212.2:g.222395C>A
NG_023212.3:g.222395C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2617+25C>A ENSP00000514008.1:n.2617+25C>A
ENST00000251582.12:c.2617+25C>A MANE Select ENSP00000251582.7:n.2617+25C>A
ENST00000518335.3:c.2617+25C>A ENSP00000489888.2:n.2617+25C>A
ENST00000251582.11:c.2617+25C>A ENSP00000251582.7:n.2617+25C>A
NM_014244.4:c.2617+25C>A NP_055059.2:n.2617+25C>A
NM_014244.5:c.2617+25C>A MANE Select NP_055059.2:n.2617+25C>A
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