Canonical Allele Identifier: CA8365961
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 998538
ClinVar RCV Id: RCV001294410
dbSNP Id: rs756393266
ExAC: 17:7915794 C / T
gnomAD v2: 17-7915794-C-T
gnomAD v4: 17-8012476-C-T
COSMIC: COSM985799
MyVariant Identifiers: chr17:g.7915794C>T (hg19) chr17:g.8012476C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012476C>T , CM000679.2:g.8012476C>T GRCh38
NC_000017.10:g.7915794C>T , CM000679.1:g.7915794C>T GRCh37
NC_000017.9:g.7856519C>T NCBI36
NG_009092.1:g.14807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1983C>T MANE Select ENSP00000254854.4:p.Gly661=
ENST00000254854.4:c.1983C>T ENSP00000254854.4:p.Gly661=
NM_000180.3:c.1983C>T NP_000171.1:p.Gly661=
XM_011523816.1:c.1983C>T XP_011522118.1:p.Gly661=
NM_000180.4:c.1983C>T MANE Select NP_000171.1:p.Gly661=
Search 100 bp 5'
Search 100 bp 3'