Canonical Allele Identifier: CA397955222
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 982530
ClinVar RCV Id: RCV001262100 RCV001262105
dbSNP Id: rs777075412
gnomAD v2: 17-7919100-G-A
gnomAD v4: 17-8015782-G-A
MyVariant Identifiers: chr17:g.7919100G>A (hg19) chr17:g.8015782G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015782G>A , CM000679.2:g.8015782G>A GRCh38
NC_000017.10:g.7919100G>A , CM000679.1:g.7919100G>A GRCh37
NC_000017.9:g.7859825G>A NCBI36
NG_009092.1:g.18113G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.2984G>A MANE Select ENSP00000254854.4:p.Arg995Gln
ENST00000254854.4:c.2984G>A ENSP00000254854.4:p.Arg995Gln
NM_000180.3:c.2984G>A NP_000171.1:p.Arg995Gln
XM_011523816.1:c.2984G>A XP_011522118.1:p.Arg995Gln
NM_000180.4:c.2984G>A MANE Select NP_000171.1:p.Arg995Gln
Search 100 bp 5'
Search 100 bp 3'