Canonical Allele Identifier: CA397953615
Gene: GUCY2D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.8014700C>G
GRCh37 chr17:g.7918018C>G
Revel Score:
ENST00000254854 (MANE Select) 0.750
ClinVar RCV:
RCV002250040
ClinVar Variation:
1685873
dbSNP:
61750172
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8014700C>G , CM000679.2:g.8014700C>G GRCh38
NC_000017.10:g.7918018C>G , CM000679.1:g.7918018C>G GRCh37
NC_000017.9:g.7858743C>G NCBI36
NG_009092.1:g.17031C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2512C>G MANE Select ENSP00000254854.4:p.Arg838Gly
ENST00000254854.4:c.2512C>G ENSP00000254854.4:p.Arg838Gly
NM_000180.3:c.2512C>G NP_000171.1:p.Arg838Gly
XM_011523816.1:c.2512C>G XP_011522118.1:p.Arg838Gly
NM_000180.4:c.2512C>G MANE Select NP_000171.1:p.Arg838Gly
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