Canonical Allele Identifier: CA8365988
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1005049
ClinVar RCV Id: RCV001301851 RCV002539486
dbSNP Id: rs200128473
ExAC: 17:7915904 C / G
gnomAD v2: 17-7915904-C-G
gnomAD v3: 17-8012586-C-G
gnomAD v4: 17-8012586-C-G
MyVariant Identifiers: chr17:g.7915904C>G (hg19) chr17:g.8012586C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012586C>G , CM000679.2:g.8012586C>G GRCh38
NC_000017.10:g.7915904C>G , CM000679.1:g.7915904C>G GRCh37
NC_000017.9:g.7856629C>G NCBI36
NG_009092.1:g.14917C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2093C>G MANE Select ENSP00000254854.4:p.Pro698Arg
ENST00000254854.4:c.2093C>G ENSP00000254854.4:p.Pro698Arg
NM_000180.3:c.2093C>G NP_000171.1:p.Pro698Arg
XM_011523816.1:c.2093C>G XP_011522118.1:p.Pro698Arg
NM_000180.4:c.2093C>G MANE Select NP_000171.1:p.Pro698Arg
Search 100 bp 5'
Search 100 bp 3'