Canonical Allele Identifier: CA397954292
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 974647
ClinVar RCV Id: RCV001250845
dbSNP Id: rs1975943416
gnomAD v4: 17-8015326-A-G
MyVariant Identifiers: chr17:g.7918644A>G (hg19) chr17:g.8015326A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8015326A>G , CM000679.2:g.8015326A>G GRCh38
NC_000017.10:g.7918644A>G , CM000679.1:g.7918644A>G GRCh37
NC_000017.9:g.7859369A>G NCBI36
NG_009092.1:g.17657A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254854.5:c.2770-2A>G MANE Select ENSP00000254854.4:n.2770-2A>G
ENST00000254854.4:c.2770-2A>G ENSP00000254854.4:n.2770-2A>G
NM_000180.3:c.2770-2A>G NP_000171.1:n.2770-2A>G
XM_011523816.1:c.2770-2A>G XP_011522118.1:n.2770-2A>G
NM_000180.4:c.2770-2A>G MANE Select NP_000171.1:n.2770-2A>G
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