Canonical Allele Identifier: CA8365887
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 712631
ClinVar RCV Id: RCV001486153 RCV003442130
dbSNP Id: rs918147589
ExAC: 17:7915455 C / G
gnomAD v2: 17-7915455-C-G
gnomAD v3: 17-8012137-C-G
gnomAD v4: 17-8012137-C-G
MyVariant Identifiers: chr17:g.7915455C>G (hg19) chr17:g.7915455_7915456delinsGT (hg19) chr17:g.8012137C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012137C>G , CM000679.2:g.8012137C>G GRCh38
NC_000017.10:g.7915455C>G , CM000679.1:g.7915455C>G GRCh37
NC_000017.9:g.7856180C>G NCBI36
NG_009092.1:g.14468C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1750-7C>G MANE Select ENSP00000254854.4:n.1750-7C>G
ENST00000254854.4:c.1750-7C>G ENSP00000254854.4:n.1750-7C>G
NM_000180.3:c.1750-7C>G NP_000171.1:n.1750-7C>G
XM_011523816.1:c.1750-7C>G XP_011522118.1:n.1750-7C>G
NM_000180.4:c.1750-7C>G MANE Select NP_000171.1:n.1750-7C>G
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