Canonical Allele Identifier: CA448034226
Gene: ADAMTS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.178556948G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129947G>C , CM000667.2:g.179129947G>C GRCh38
NC_000005.9:g.178556948G>C , CM000667.1:g.178556948G>C GRCh37
NC_000005.8:g.178489554G>C NCBI36
NG_023212.2:g.220382C>G
NG_023212.3:g.220382C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2442C>G ENSP00000514008.1:p.Gly814=
ENST00000251582.12:c.2442C>G MANE Select ENSP00000251582.7:p.Gly814=
ENST00000518335.3:c.2442C>G ENSP00000489888.2:p.Gly814=
ENST00000251582.11:c.2442C>G ENSP00000251582.7:p.Gly814=
NM_014244.4:c.2442C>G NP_055059.2:p.Gly814=
NM_014244.5:c.2442C>G MANE Select NP_055059.2:p.Gly814=