Canonical Allele Identifier: CA362424041
Gene: ADAMTS2 HGNC NCBI

Linked Data

gnomAD v4: 5-179130017-A-G
MyVariant Identifiers: chr5:g.178557018A>G (hg19) chr5:g.179130017A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179130017A>G , CM000667.2:g.179130017A>G GRCh38
NC_000005.9:g.178557018A>G , CM000667.1:g.178557018A>G GRCh37
NC_000005.8:g.178489624A>G NCBI36
NG_023212.2:g.220312T>C
NG_023212.3:g.220312T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2372T>C ENSP00000514008.1:p.Met791Thr
ENST00000251582.12:c.2372T>C MANE Select ENSP00000251582.7:p.Met791Thr
ENST00000518335.3:c.2372T>C ENSP00000489888.2:p.Met791Thr
ENST00000251582.11:c.2372T>C ENSP00000251582.7:p.Met791Thr
NM_014244.4:c.2372T>C NP_055059.2:p.Met791Thr
NM_014244.5:c.2372T>C MANE Select NP_055059.2:p.Met791Thr
Search 100 bp 5'
Search 100 bp 3'