Canonical Allele Identifier: CA10624251

Gene: ADAMTS2

Linked Data

• ClinVar Variation Id: 353061
• ClinVar RCV Id: RCV000341924
• dbSNP Id: rs539443462
• gnomAD v2: 5-178539282-TTTAAGAA-T
• gnomAD v3: 5-179112281-TTTAAGAA-T
• gnomAD v4: 5-179112281-TTTAAGAA-T
• MyVariant Identifiers: chr5:g.178539283_178539289del (hg19) ; chr5:g.179112282_179112288del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179112285_179112291del , CM000667.2:g.179112285_179112291del	GRCh38
NC_000005.9:g.178539286_178539292del , CM000667.1:g.178539286_178539292del	GRCh37
NC_000005.8:g.178471892_178471898del	NCBI36
NG_023212.2:g.238041_238047del
NG_023212.3:g.238041_238047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251582.12:c.*1579_*1585del MANE Select	ENSP00000251582.7:n.*1579_*1585del
ENST00000251582.11:c.*1579_*1585del	ENSP00000251582.7:n.*1579_*1585del
NM_014244.4:c.*1579_*1585del	NP_055059.2:n.*1579_*1585del
NM_014244.5:c.*1579_*1585del MANE Select	NP_055059.2:n.*1579_*1585del