Canonical Allele Identifier: CA3595559

Gene: ADAMTS2

Linked Data

• ClinVar Variation Id: 353104
• ClinVar RCV Id: RCV000344325 ; RCV001310890 ; RCV003957824
• dbSNP Id: rs141661592
• ExAC: 5:178556951 G / A
• gnomAD v2: 5-178556951-G-A
• gnomAD v3: 5-179129950-G-A
• gnomAD v4: 5-179129950-G-A
• COSMIC: COSM242825
• MyVariant Identifiers: chr5:g.178556951G>A (hg19) ; chr5:g.179129950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129950G>A , CM000667.2:g.179129950G>A	GRCh38
NC_000005.9:g.178556951G>A , CM000667.1:g.178556951G>A	GRCh37
NC_000005.8:g.178489557G>A	NCBI36
NG_023212.2:g.220379C>T
NG_023212.3:g.220379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.2439C>T	ENSP00000514008.1:p.His813=
ENST00000251582.12:c.2439C>T MANE Select	ENSP00000251582.7:p.His813=
ENST00000518335.3:c.2439C>T	ENSP00000489888.2:p.His813=
ENST00000251582.11:c.2439C>T	ENSP00000251582.7:p.His813=
NM_014244.4:c.2439C>T	NP_055059.2:p.His813=
NM_014244.5:c.2439C>T MANE Select	NP_055059.2:p.His813=