Canonical Allele Identifier: CA624867857
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2944129
ClinVar RCV Id: RCV003805879
dbSNP Id: rs1179230445
gnomAD v2: 17-7915679-G-C
gnomAD v4: 17-8012361-G-C
MyVariant Identifiers: chr17:g.7915679G>C (hg19) chr17:g.8012361G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012361G>C , CM000679.2:g.8012361G>C GRCh38
NC_000017.10:g.7915679G>C , CM000679.1:g.7915679G>C GRCh37
NC_000017.9:g.7856404G>C NCBI36
NG_009092.1:g.14692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1956+11G>C MANE Select ENSP00000254854.4:n.1956+11G>C
ENST00000254854.4:c.1956+11G>C ENSP00000254854.4:n.1956+11G>C
NM_000180.3:c.1956+11G>C NP_000171.1:n.1956+11G>C
XM_011523816.1:c.1956+11G>C XP_011522118.1:n.1956+11G>C
NM_000180.4:c.1956+11G>C MANE Select NP_000171.1:n.1956+11G>C
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