Canonical Allele Identifier: CA10620174

Gene: ADAMTS2

Linked Data

• ClinVar Variation Id: 353039
• ClinVar RCV Id: RCV000399195
• dbSNP Id: rs11740156
• gnomAD v2: 5-178538014-A-G
• gnomAD v3: 5-179111013-A-G
• gnomAD v4: 5-179111013-A-G
• MyVariant Identifiers: chr5:g.178538014A>G (hg19) ; chr5:g.179111013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179111013A>G , CM000667.2:g.179111013A>G	GRCh38
NC_000005.9:g.178538014A>G , CM000667.1:g.178538014A>G	GRCh37
NC_000005.8:g.178470620A>G	NCBI36
NG_023212.2:g.239316T>C
NG_023212.3:g.239316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251582.12:c.*2854T>C MANE Select	ENSP00000251582.7:n.*2854T>C
ENST00000251582.11:c.*2854T>C	ENSP00000251582.7:n.*2854T>C
NM_014244.4:c.*2854T>C	NP_055059.2:n.*2854T>C
NM_014244.5:c.*2854T>C MANE Select	NP_055059.2:n.*2854T>C