Canonical Allele Identifier: CA362426528

Gene: ADAMTS2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014244.5:c.673C>G MANE Select	NP_055059.2:p.Gln225Glu
ENST00000251582.12:c.673C>G MANE Select	ENSP00000251582.7:p.Gln225Glu
NM_014244.4:c.673C>G	NP_055059.2:p.Gln225Glu
NM_021599.2:c.673C>G	NP_067610.1:p.Gln225Glu
NM_021599.3:c.673C>G	NP_067610.1:p.Gln225Glu
NM_021599.4:c.673C>G	NP_067610.1:p.Gln225Glu
ENST00000251582.11:c.673C>G	ENSP00000251582.7:p.Gln225Glu
ENST00000274609.5:c.673C>G	ENSP00000274609.5:p.Gln225Glu
ENST00000518335.3:c.673C>G	ENSP00000489888.2:p.Gln225Glu
ENST00000698889.1:c.673C>G	ENSP00000514008.1:p.Gln225Glu