Canonical Allele Identifier: CA133032993
Gene: ADAMTS2 HGNC NCBI

Linked Data

dbSNP Id: rs547814726
gnomAD v2: 5-178556822-C-A
gnomAD v3: 5-179129821-C-A
gnomAD v4: 5-179129821-C-A
MyVariant Identifiers: chr5:g.178556822C>A (hg19) chr5:g.179129821C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179129821C>A , CM000667.2:g.179129821C>A GRCh38
NC_000005.9:g.178556822C>A , CM000667.1:g.178556822C>A GRCh37
NC_000005.8:g.178489428C>A NCBI36
NG_023212.2:g.220508G>T
NG_023212.3:g.220508G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000698889.1:c.2457+111G>T ENSP00000514008.1:n.2457+111G>T
ENST00000251582.12:c.2457+111G>T MANE Select ENSP00000251582.7:n.2457+111G>T
ENST00000518335.3:c.2457+111G>T ENSP00000489888.2:n.2457+111G>T
ENST00000251582.11:c.2457+111G>T ENSP00000251582.7:n.2457+111G>T
NM_014244.4:c.2457+111G>T NP_055059.2:n.2457+111G>T
NM_014244.5:c.2457+111G>T MANE Select NP_055059.2:n.2457+111G>T
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