Canonical Allele Identifier: CA564902268

Gene: ADAMTS2

Linked Data

• dbSNP Id: rs1304580070
• gnomAD v2: 5-178556800-TGCCAAAGGCAG-T
• gnomAD v3: 5-179129799-TGCCAAAGGCAG-T
• gnomAD v4: 5-179129799-TGCCAAAGGCAG-T
• MyVariant Identifiers: chr5:g.178556801_178556811del (hg19) ; chr5:g.179129800_179129810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129808_179129818del , CM000667.2:g.179129808_179129818del	GRCh38
NC_000005.9:g.178556809_178556819del , CM000667.1:g.178556809_178556819del	GRCh37
NC_000005.8:g.178489415_178489425del	NCBI36
NG_023212.2:g.220519_220529del
NG_023212.3:g.220519_220529del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698889.1:c.2457+122_2457+132del	ENSP00000514008.1:n.2457+122_2457+132del
ENST00000251582.12:c.2457+122_2457+132del MANE Select	ENSP00000251582.7:n.2457+122_2457+132del
ENST00000518335.3:c.2457+122_2457+132del	ENSP00000489888.2:n.2457+122_2457+132del
ENST00000251582.11:c.2457+122_2457+132del	ENSP00000251582.7:n.2457+122_2457+132del
NM_014244.4:c.2457+122_2457+132del	NP_055059.2:n.2457+122_2457+132del
NM_014244.5:c.2457+122_2457+132del MANE Select	NP_055059.2:n.2457+122_2457+132del