Canonical Allele Identifier: CA287531258
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1465635
ClinVar RCV Id: RCV001990328
dbSNP Id: rs935195316
gnomAD v2: 17-7915863-C-A
gnomAD v4: 17-8012545-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012545C>A , CM000679.2:g.8012545C>A GRCh38
NC_000017.10:g.7915863C>A , CM000679.1:g.7915863C>A GRCh37
NC_000017.9:g.7856588C>A NCBI36
NG_009092.1:g.14876C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2052C>A MANE Select ENSP00000254854.4:p.Asp684Glu
ENST00000254854.4:c.2052C>A ENSP00000254854.4:p.Asp684Glu
NM_000180.3:c.2052C>A NP_000171.1:p.Asp684Glu
XM_011523816.1:c.2052C>A XP_011522118.1:p.Asp684Glu
NM_000180.4:c.2052C>A MANE Select NP_000171.1:p.Asp684Glu