Canonical Allele Identifier: CA397952638
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1375409540
gnomAD v2: 17-7915916-G-A
gnomAD v3: 17-8012598-G-A
gnomAD v4: 17-8012598-G-A
MyVariant Identifiers: chr17:g.7915916G>A (hg19) chr17:g.8012598G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012598G>A , CM000679.2:g.8012598G>A GRCh38
NC_000017.10:g.7915916G>A , CM000679.1:g.7915916G>A GRCh37
NC_000017.9:g.7856641G>A NCBI36
NG_009092.1:g.14929G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2105G>A MANE Select ENSP00000254854.4:p.Arg702Lys
ENST00000254854.4:c.2105G>A ENSP00000254854.4:p.Arg702Lys
NM_000180.3:c.2105G>A NP_000171.1:p.Arg702Lys
XM_011523816.1:c.2105G>A XP_011522118.1:p.Arg702Lys
NM_000180.4:c.2105G>A MANE Select NP_000171.1:p.Arg702Lys
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