Canonical Allele Identifier: CA2769633644
Gene: ADAMTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129812C>T , CM000667.2:g.179129812C>T GRCh38
NC_000005.9:g.178556813C>T , CM000667.1:g.178556813C>T GRCh37
NC_000005.8:g.178489419C>T NCBI36
NG_023212.2:g.220517G>A
NG_023212.3:g.220517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.2457+120G>A ENSP00000514008.1:n.2457+120G>A
ENST00000251582.12:c.2457+120G>A MANE Select ENSP00000251582.7:n.2457+120G>A
ENST00000518335.3:c.2457+120G>A ENSP00000489888.2:n.2457+120G>A
ENST00000251582.11:c.2457+120G>A ENSP00000251582.7:n.2457+120G>A
NM_014244.4:c.2457+120G>A NP_055059.2:n.2457+120G>A
NM_014244.5:c.2457+120G>A MANE Select NP_055059.2:n.2457+120G>A