Canonical Allele Identifier: CA3595564

Gene: ADAMTS2

Linked Data

• ClinVar Variation Id: 537396
• ClinVar RCV Id: RCV000646234 ; RCV002266996
• dbSNP Id: rs370350117
• ExAC: 5:178556976 G / A
• gnomAD v2: 5-178556976-G-A
• gnomAD v3: 5-179129975-G-A
• gnomAD v4: 5-179129975-G-A
• COSMIC: COSM2149021
• MyVariant Identifiers: chr5:g.178556976G>A (hg19) ; chr5:g.179129975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129975G>A , CM000667.2:g.179129975G>A	GRCh38
NC_000005.9:g.178556976G>A , CM000667.1:g.178556976G>A	GRCh37
NC_000005.8:g.178489582G>A	NCBI36
NG_023212.2:g.220354C>T
NG_023212.3:g.220354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.2414C>T	ENSP00000514008.1:p.Thr805Met
ENST00000251582.12:c.2414C>T MANE Select	ENSP00000251582.7:p.Thr805Met
ENST00000518335.3:c.2414C>T	ENSP00000489888.2:p.Thr805Met
ENST00000251582.11:c.2414C>T	ENSP00000251582.7:p.Thr805Met
NM_014244.4:c.2414C>T	NP_055059.2:p.Thr805Met
NM_014244.5:c.2414C>T MANE Select	NP_055059.2:p.Thr805Met