Canonical Allele Identifier: CA2581520148
Community Standard Title: NM_014244.5(ADAMTS2):c.673C= (p.Gln225=)
Gene: ADAMTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179272926G= , CM000667.2:g.179272926G= GRCh38
NC_000005.9:g.178699927G= , CM000667.1:g.178699927G= GRCh37
NC_000005.8:g.178632533G= NCBI36
NG_023212.2:g.77403C=
NG_023212.3:g.77403C=

Transcript Alleles

HGVS Amino-acid Change
NM_014244.5:c.673C= MANE Select NP_055059.2:p.Gln225=
ENST00000251582.12:c.673C= MANE Select ENSP00000251582.7:p.Gln225=
NM_014244.4:c.673C= NP_055059.2:p.Gln225=
NM_021599.2:c.673C= NP_067610.1:p.Gln225=
NM_021599.3:c.673C= NP_067610.1:p.Gln225=
NM_021599.4:c.673C= NP_067610.1:p.Gln225=
ENST00000251582.11:c.673C= ENSP00000251582.7:p.Gln225=
ENST00000274609.5:c.673C= ENSP00000274609.5:p.Gln225=
ENST00000518335.3:c.673C= ENSP00000489888.2:p.Gln225=
ENST00000698889.1:c.673C= ENSP00000514008.1:p.Gln225=