Canonical Allele Identifier: CA397952479
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1282252899
gnomAD v2: 17-7915874-G-A
gnomAD v4: 17-8012556-G-A
COSMIC: COSM3523513
MyVariant Identifiers: chr17:g.7915874G>A (hg19) chr17:g.8012556G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012556G>A , CM000679.2:g.8012556G>A GRCh38
NC_000017.10:g.7915874G>A , CM000679.1:g.7915874G>A GRCh37
NC_000017.9:g.7856599G>A NCBI36
NG_009092.1:g.14887G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2063G>A MANE Select ENSP00000254854.4:p.Gly688Glu
ENST00000254854.4:c.2063G>A ENSP00000254854.4:p.Gly688Glu
NM_000180.3:c.2063G>A NP_000171.1:p.Gly688Glu
XM_011523816.1:c.2063G>A XP_011522118.1:p.Gly688Glu
NM_000180.4:c.2063G>A MANE Select NP_000171.1:p.Gly688Glu
Search 100 bp 5'
Search 100 bp 3'