Canonical Allele Identifier: CA362423121
Gene: ADAMTS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179128030A>C , CM000667.2:g.179128030A>C GRCh38
NC_000005.9:g.178555031A>C , CM000667.1:g.178555031A>C GRCh37
NC_000005.8:g.178487637A>C NCBI36
NG_023212.2:g.222299T>G
NG_023212.3:g.222299T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2546T>G ENSP00000514008.1:p.Leu849Arg
ENST00000251582.12:c.2546T>G MANE Select ENSP00000251582.7:p.Leu849Arg
ENST00000518335.3:c.2546T>G ENSP00000489888.2:p.Leu849Arg
ENST00000251582.11:c.2546T>G ENSP00000251582.7:p.Leu849Arg
NM_014244.4:c.2546T>G NP_055059.2:p.Leu849Arg
NM_014244.5:c.2546T>G MANE Select NP_055059.2:p.Leu849Arg