Canonical Allele Identifier: CA362423845
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195283
ClinVar RCV Id: RCV002647638
dbSNP Id: rs1225300246
gnomAD v2: 5-178556940-G-C
gnomAD v4: 5-179129939-G-C
MyVariant Identifiers: chr5:g.178556940G>C (hg19) chr5:g.179129939G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129939G>C , CM000667.2:g.179129939G>C GRCh38
NC_000005.9:g.178556940G>C , CM000667.1:g.178556940G>C GRCh37
NC_000005.8:g.178489546G>C NCBI36
NG_023212.2:g.220390C>G
NG_023212.3:g.220390C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2450C>G ENSP00000514008.1:p.Thr817Ser
ENST00000251582.12:c.2450C>G MANE Select ENSP00000251582.7:p.Thr817Ser
ENST00000518335.3:c.2450C>G ENSP00000489888.2:p.Thr817Ser
ENST00000251582.11:c.2450C>G ENSP00000251582.7:p.Thr817Ser
NM_014244.4:c.2450C>G NP_055059.2:p.Thr817Ser
NM_014244.5:c.2450C>G MANE Select NP_055059.2:p.Thr817Ser
Search 100 bp 5'
Search 100 bp 3'