Canonical Allele Identifier: CA3596001
Gene: ADAMTS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288085
ClinVar RCV Id: RCV000327648 RCV000590412 RCV000611691
dbSNP Id: rs2278222
ExAC: 5:178581797 C / T
gnomAD v2: 5-178581797-C-T
gnomAD v3: 5-179154796-C-T
gnomAD v4: 5-179154796-C-T
MyVariant Identifiers: chr5:g.178581797C>T (hg19) chr5:g.179154796C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179154796C>T , CM000667.2:g.179154796C>T GRCh38
NC_000005.9:g.178581797C>T , CM000667.1:g.178581797C>T GRCh37
NC_000005.8:g.178514403C>T NCBI36
NG_023212.2:g.195533G>A
NG_023212.3:g.195533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698889.1:c.1238+18G>A ENSP00000514008.1:n.1238+18G>A
ENST00000251582.12:c.1238+18G>A MANE Select ENSP00000251582.7:n.1238+18G>A
ENST00000518335.3:c.1238+18G>A ENSP00000489888.2:n.1238+18G>A
ENST00000251582.11:c.1238+18G>A ENSP00000251582.7:n.1238+18G>A
ENST00000274609.5:c.1238+18G>A ENSP00000274609.5:n.1238+18G>A
NM_014244.4:c.1238+18G>A NP_055059.2:n.1238+18G>A
NM_021599.2:c.1238+18G>A NP_067610.1:n.1238+18G>A
NM_021599.3:c.1238+18G>A NP_067610.1:n.1238+18G>A
NM_014244.5:c.1238+18G>A MANE Select NP_055059.2:n.1238+18G>A
NM_021599.4:c.1238+18G>A NP_067610.1:n.1238+18G>A
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