Canonical Allele Identifier: CA3595557

Gene: ADAMTS2

Linked Data

• ClinVar Variation Id: 755678
• ClinVar RCV Id: RCV001414945 ; RCV002279649
• dbSNP Id: rs138564815
• ExAC: 5:178556939 G / A
• gnomAD v2: 5-178556939-G-A
• gnomAD v3: 5-179129938-G-A
• gnomAD v4: 5-179129938-G-A
• MyVariant Identifiers: chr5:g.178556939G>A (hg19) ; chr5:g.179129938G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.179129938G>A , CM000667.2:g.179129938G>A	GRCh38
NC_000005.9:g.178556939G>A , CM000667.1:g.178556939G>A	GRCh37
NC_000005.8:g.178489545G>A	NCBI36
NG_023212.2:g.220391C>T
NG_023212.3:g.220391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698889.1:c.2451C>T	ENSP00000514008.1:p.Thr817=
ENST00000251582.12:c.2451C>T MANE Select	ENSP00000251582.7:p.Thr817=
ENST00000518335.3:c.2451C>T	ENSP00000489888.2:p.Thr817=
ENST00000251582.11:c.2451C>T	ENSP00000251582.7:p.Thr817=
NM_014244.4:c.2451C>T	NP_055059.2:p.Thr817=
NM_014244.5:c.2451C>T MANE Select	NP_055059.2:p.Thr817=