Canonical Allele Identifier: CA497953199
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2927555
ClinVar RCV Id: RCV003784185
dbSNP Id: rs1298131011
gnomAD v2: 17-7907037-T-C
gnomAD v4: 17-8003719-T-C
MyVariant Identifiers: chr17:g.7907037T>C (hg19) chr17:g.8003719T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8003719T>C , CM000679.2:g.8003719T>C GRCh38
NC_000017.10:g.7907037T>C , CM000679.1:g.7907037T>C GRCh37
NC_000017.9:g.7847762T>C NCBI36
NG_009092.1:g.6050T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.672T>C MANE Select ENSP00000254854.4:p.Ser224=
ENST00000254854.4:c.672T>C ENSP00000254854.4:p.Ser224=
NM_000180.3:c.672T>C NP_000171.1:p.Ser224=
XM_011523816.1:c.672T>C XP_011522118.1:p.Ser224=
NM_000180.4:c.672T>C MANE Select NP_000171.1:p.Ser224=
Search 100 bp 5'
Search 100 bp 3'