Canonical Allele Identifier: CA3595212
Gene: ADAMTS2 HGNC NCBI
ClinVar RCV:
RCV000299782
RCV000422671
ClinVar Variation:
353083
COSMIC:
COSM3761149
dbSNP:
1054480
gnomAD v2:
5:178540975 G / A
gnomAD v3:
5:179113974 G / A
gnomAD v4:
chr5-179113974-G-A
Joint Max Group AF 0.38630316 (AMR)
Genomes Max Group AF 0.35902944 (SAS)
Exomes Max Group AF 0.39841289 (AMR)
MyVariant.info:
GRCh38 chr5:g.179113974G>A
GRCh37 chr5:g.178540975G>A
Revel Score:
ENST00000251582 (MANE Select) 0.101
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179113974G>A , CM000667.2:g.179113974G>A GRCh38
NC_000005.9:g.178540975G>A , CM000667.1:g.178540975G>A GRCh37
NC_000005.8:g.178473581G>A NCBI36
NG_023212.2:g.236355C>T
NG_023212.3:g.236355C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251582.12:c.3529C>T MANE Select ENSP00000251582.7:p.Pro1177Ser
ENST00000251582.11:c.3529C>T ENSP00000251582.7:p.Pro1177Ser
NM_014244.4:c.3529C>T NP_055059.2:p.Pro1177Ser
NM_014244.5:c.3529C>T MANE Select NP_055059.2:p.Pro1177Ser
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