Canonical Allele Identifier: CA397952564
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1494102
ClinVar RCV Id: RCV002012798
dbSNP Id: rs1237783733
gnomAD v2: 17-7915895-A-G
gnomAD v3: 17-8012577-A-G
gnomAD v4: 17-8012577-A-G
MyVariant Identifiers: chr17:g.7915895A>G (hg19) chr17:g.8012577A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012577A>G , CM000679.2:g.8012577A>G GRCh38
NC_000017.10:g.7915895A>G , CM000679.1:g.7915895A>G GRCh37
NC_000017.9:g.7856620A>G NCBI36
NG_009092.1:g.14908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2084A>G MANE Select ENSP00000254854.4:p.Lys695Arg
ENST00000254854.4:c.2084A>G ENSP00000254854.4:p.Lys695Arg
NM_000180.3:c.2084A>G NP_000171.1:p.Lys695Arg
XM_011523816.1:c.2084A>G XP_011522118.1:p.Lys695Arg
NM_000180.4:c.2084A>G MANE Select NP_000171.1:p.Lys695Arg
Search 100 bp 5'
Search 100 bp 3'