Canonical Allele Identifier: CA397955095
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2585236
ClinVar RCV Id: RCV003337852 RCV003777438
dbSNP Id: rs1395017892
gnomAD v2: 17-7919068-C-A
gnomAD v4: 17-8015750-C-A
MyVariant Identifiers: chr17:g.7919068C>A (hg19) chr17:g.8015750C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015750C>A , CM000679.2:g.8015750C>A GRCh38
NC_000017.10:g.7919068C>A , CM000679.1:g.7919068C>A GRCh37
NC_000017.9:g.7859793C>A NCBI36
NG_009092.1:g.18081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2952C>A MANE Select ENSP00000254854.4:p.Cys984Ter
ENST00000254854.4:c.2952C>A ENSP00000254854.4:p.Cys984Ter
NM_000180.3:c.2952C>A NP_000171.1:p.Cys984Ter
XM_011523816.1:c.2952C>A XP_011522118.1:p.Cys984Ter
NM_000180.4:c.2952C>A MANE Select NP_000171.1:p.Cys984Ter
Search 100 bp 5'
Search 100 bp 3'