Canonical Allele Identifier: CA8365962
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 839085
ClinVar RCV Id: RCV001040770 RCV002250718 RCV002489567
dbSNP Id: rs143585840
ExAC: 17:7915795 G / A
gnomAD v2: 17-7915795-G-A
gnomAD v3: 17-8012477-G-A
gnomAD v4: 17-8012477-G-A
COSMIC: COSM3388287
MyVariant Identifiers: chr17:g.7915795G>A (hg19) chr17:g.8012477G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012477G>A , CM000679.2:g.8012477G>A GRCh38
NC_000017.10:g.7915795G>A , CM000679.1:g.7915795G>A GRCh37
NC_000017.9:g.7856520G>A NCBI36
NG_009092.1:g.14808G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1984G>A MANE Select ENSP00000254854.4:p.Val662Met
ENST00000254854.4:c.1984G>A ENSP00000254854.4:p.Val662Met
NM_000180.3:c.1984G>A NP_000171.1:p.Val662Met
XM_011523816.1:c.1984G>A XP_011522118.1:p.Val662Met
NM_000180.4:c.1984G>A MANE Select NP_000171.1:p.Val662Met
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