Canonical Allele Identifier: CA287534825
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8016241A>G
GRCh37 chr17:g.7919559A>G
Revel Score:
ENST00000254854 (MANE Select) 0.450
gnomAD v2:
17:7919559 A / G
gnomAD v3:
17:8016241 A / G
gnomAD v4:
chr17-8016241-A-G
Joint Max Group AF 0.00001749 (AFR)
Genomes Max Group AF 0.00003249 (AFR)
ClinVar Allele:
1013232
ClinVar RCV:
RCV001320637
ClinVar Variation:
1020966
dbSNP:
878853342
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8016241A>G , CM000679.2:g.8016241A>G GRCh38
NC_000017.10:g.7919559A>G , CM000679.1:g.7919559A>G GRCh37
NC_000017.9:g.7860284A>G NCBI36
NG_009092.1:g.18572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.3175A>G MANE Select ENSP00000254854.4:p.Arg1059Gly
ENST00000254854.4:c.3175A>G ENSP00000254854.4:p.Arg1059Gly
ENST00000574510.1:n.113A>G
NM_000180.3:c.3175A>G NP_000171.1:p.Arg1059Gly
XM_011523816.1:c.3175A>G XP_011522118.1:p.Arg1059Gly
NM_000180.4:c.3175A>G MANE Select NP_000171.1:p.Arg1059Gly
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