Canonical Allele Identifier: CA362423836
Gene: ADAMTS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.178556934A>T (hg19) chr5:g.179129933A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129933A>T , CM000667.2:g.179129933A>T GRCh38
NC_000005.9:g.178556934A>T , CM000667.1:g.178556934A>T GRCh37
NC_000005.8:g.178489540A>T NCBI36
NG_023212.2:g.220396T>A
NG_023212.3:g.220396T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2456T>A ENSP00000514008.1:p.Leu819Gln
ENST00000251582.12:c.2456T>A MANE Select ENSP00000251582.7:p.Leu819Gln
ENST00000518335.3:c.2456T>A ENSP00000489888.2:p.Leu819Gln
ENST00000251582.11:c.2456T>A ENSP00000251582.7:p.Leu819Gln
NM_014244.4:c.2456T>A NP_055059.2:p.Leu819Gln
NM_014244.5:c.2456T>A MANE Select NP_055059.2:p.Leu819Gln
Search 100 bp 5'
Search 100 bp 3'