Canonical Allele Identifier: CA397951619
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 1949984
ClinVar RCV Id: RCV002671364
dbSNP Id: rs1189135118
gnomAD v2: 17-7915577-G-T
gnomAD v4: 17-8012259-G-T
MyVariant Identifiers: chr17:g.7915577G>T (hg19) chr17:g.8012259G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012259G>T , CM000679.2:g.8012259G>T GRCh38
NC_000017.10:g.7915577G>T , CM000679.1:g.7915577G>T GRCh37
NC_000017.9:g.7856302G>T NCBI36
NG_009092.1:g.14590G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1865G>T MANE Select ENSP00000254854.4:p.Cys622Phe
ENST00000254854.4:c.1865G>T ENSP00000254854.4:p.Cys622Phe
NM_000180.3:c.1865G>T NP_000171.1:p.Cys622Phe
XM_011523816.1:c.1865G>T XP_011522118.1:p.Cys622Phe
NM_000180.4:c.1865G>T MANE Select NP_000171.1:p.Cys622Phe
Search 100 bp 5'
Search 100 bp 3'