Canonical Allele Identifier: CA362424029
Gene: ADAMTS2 HGNC NCBI

Linked Data

COSMIC: COSM482613

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179130015C>T , CM000667.2:g.179130015C>T GRCh38
NC_000005.9:g.178557016C>T , CM000667.1:g.178557016C>T GRCh37
NC_000005.8:g.178489622C>T NCBI36
NG_023212.2:g.220314G>A
NG_023212.3:g.220314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2374G>A ENSP00000514008.1:p.Gly792Ser
ENST00000251582.12:c.2374G>A MANE Select ENSP00000251582.7:p.Gly792Ser
ENST00000518335.3:c.2374G>A ENSP00000489888.2:p.Gly792Ser
ENST00000251582.11:c.2374G>A ENSP00000251582.7:p.Gly792Ser
NM_014244.4:c.2374G>A NP_055059.2:p.Gly792Ser
NM_014244.5:c.2374G>A MANE Select NP_055059.2:p.Gly792Ser