Canonical Allele Identifier: CA8365977
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1001416
ClinVar RCV Id: RCV001297715 RCV002486139 RCV003166665
dbSNP Id: rs751340355
ExAC: 17:7915870 C / T
gnomAD v2: 17-7915870-C-T
gnomAD v3: 17-8012552-C-T
gnomAD v4: 17-8012552-C-T
MyVariant Identifiers: chr17:g.7915870C>T (hg19) chr17:g.8012552C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012552C>T , CM000679.2:g.8012552C>T GRCh38
NC_000017.10:g.7915870C>T , CM000679.1:g.7915870C>T GRCh37
NC_000017.9:g.7856595C>T NCBI36
NG_009092.1:g.14883C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2059C>T MANE Select ENSP00000254854.4:p.His687Tyr
ENST00000254854.4:c.2059C>T ENSP00000254854.4:p.His687Tyr
NM_000180.3:c.2059C>T NP_000171.1:p.His687Tyr
XM_011523816.1:c.2059C>T XP_011522118.1:p.His687Tyr
NM_000180.4:c.2059C>T MANE Select NP_000171.1:p.His687Tyr
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