Canonical Allele Identifier: CA362423848
Gene: ADAMTS2 HGNC NCBI

Linked Data

gnomAD v4: 5-179129940-T-C
MyVariant Identifiers: chr5:g.178556941T>C (hg19) chr5:g.179129940T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129940T>C , CM000667.2:g.179129940T>C GRCh38
NC_000005.9:g.178556941T>C , CM000667.1:g.178556941T>C GRCh37
NC_000005.8:g.178489547T>C NCBI36
NG_023212.2:g.220389A>G
NG_023212.3:g.220389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2449A>G ENSP00000514008.1:p.Thr817Ala
ENST00000251582.12:c.2449A>G MANE Select ENSP00000251582.7:p.Thr817Ala
ENST00000518335.3:c.2449A>G ENSP00000489888.2:p.Thr817Ala
ENST00000251582.11:c.2449A>G ENSP00000251582.7:p.Thr817Ala
NM_014244.4:c.2449A>G NP_055059.2:p.Thr817Ala
NM_014244.5:c.2449A>G MANE Select NP_055059.2:p.Thr817Ala
Search 100 bp 5'
Search 100 bp 3'