Canonical Allele Identifier: CA362423863
Gene: ADAMTS2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2441G>T ENSP00000514008.1:p.Gly814Val
ENST00000251582.12:c.2441G>T MANE Select ENSP00000251582.7:p.Gly814Val
ENST00000518335.3:c.2441G>T ENSP00000489888.2:p.Gly814Val
ENST00000251582.11:c.2441G>T ENSP00000251582.7:p.Gly814Val
NM_014244.4:c.2441G>T NP_055059.2:p.Gly814Val
NM_014244.5:c.2441G>T MANE Select NP_055059.2:p.Gly814Val
Search 100 bp 5'
Search 100 bp 3'