Canonical Allele Identifier: CA2581520146
Community Standard Title: NM_014244.5(ADAMTS2):c.688+601G=
Gene: ADAMTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179272310C= , CM000667.2:g.179272310C= GRCh38
NC_000005.9:g.178699311C= , CM000667.1:g.178699311C= GRCh37
NC_000005.8:g.178631917C= NCBI36
NG_023212.2:g.78019G=
NG_023212.3:g.78019G=

Transcript Alleles

HGVS Amino-acid Change
NM_014244.5:c.688+601G= MANE Select NP_055059.2:n.688+601G=
ENST00000251582.12:c.688+601G= MANE Select ENSP00000251582.7:n.688+601G=
NM_014244.4:c.688+601G= NP_055059.2:n.688+601G=
NM_021599.2:c.688+601G= NP_067610.1:n.688+601G=
NM_021599.3:c.688+601G= NP_067610.1:n.688+601G=
NM_021599.4:c.688+601G= NP_067610.1:n.688+601G=
ENST00000251582.11:c.688+601G= ENSP00000251582.7:n.688+601G=
ENST00000274609.5:c.688+601G= ENSP00000274609.5:n.688+601G=
ENST00000518335.3:c.688+601G= ENSP00000489888.2:n.688+601G=
ENST00000698889.1:c.688+601G= ENSP00000514008.1:n.688+601G=