Canonical Allele Identifier: CA362423864
Gene: ADAMTS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.178556949C>G (hg19) chr5:g.179129948C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129948C>G , CM000667.2:g.179129948C>G GRCh38
NC_000005.9:g.178556949C>G , CM000667.1:g.178556949C>G GRCh37
NC_000005.8:g.178489555C>G NCBI36
NG_023212.2:g.220381G>C
NG_023212.3:g.220381G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2441G>C ENSP00000514008.1:p.Gly814Ala
ENST00000251582.12:c.2441G>C MANE Select ENSP00000251582.7:p.Gly814Ala
ENST00000518335.3:c.2441G>C ENSP00000489888.2:p.Gly814Ala
ENST00000251582.11:c.2441G>C ENSP00000251582.7:p.Gly814Ala
NM_014244.4:c.2441G>C NP_055059.2:p.Gly814Ala
NM_014244.5:c.2441G>C MANE Select NP_055059.2:p.Gly814Ala
Search 100 bp 5'
Search 100 bp 3'