Canonical Allele Identifier: CA808253470

Gene: ADAMTS2

Linked Data

• dbSNP Id: rs774715833
• gnomAD v3: 5-179143744-G-GTT
• gnomAD v4: 5-179143744-G-GTT
• MyVariant Identifiers: chr5:g.178570745_178570746insTT (hg19) ; chr5:g.179143744_179143745insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179143745_179143746insTT , CM000667.2:g.179143745_179143746insTT	GRCh38
NC_000005.9:g.178570746_178570747insTT , CM000667.1:g.178570746_178570747insTT	GRCh37
NC_000005.8:g.178503352_178503353insTT	NCBI36
NG_023212.2:g.206584_206585insAA
NG_023212.3:g.206584_206585insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.1630-3710_1630-3709insAA	ENSP00000514008.1:n.1630-3710_1630-3709insAA
ENST00000251582.12:c.1630-3710_1630-3709insAA MANE Select	ENSP00000251582.7:n.1630-3710_1630-3709insAA
ENST00000518335.3:c.1630-3710_1630-3709insAA	ENSP00000489888.2:n.1630-3710_1630-3709insAA
ENST00000251582.11:c.1630-3710_1630-3709insAA	ENSP00000251582.7:n.1630-3710_1630-3709insAA
NM_014244.4:c.1630-3710_1630-3709insAA	NP_055059.2:n.1630-3710_1630-3709insAA
NM_014244.5:c.1630-3710_1630-3709insAA MANE Select	NP_055059.2:n.1630-3710_1630-3709insAA