Canonical Allele Identifier: CA8365893
Gene: GUCY2D HGNC NCBI

Linked Data

ClinVar Variation Id: 2194245
ClinVar RCV Id: RCV002637048
dbSNP Id: rs200241218
ExAC: 17:7915471 C / G
gnomAD v2: 17-7915471-C-G
gnomAD v3: 17-8012153-C-G
gnomAD v4: 17-8012153-C-G
MyVariant Identifiers: chr17:g.7915471C>G (hg19) chr17:g.8012153C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012153C>G , CM000679.2:g.8012153C>G GRCh38
NC_000017.10:g.7915471C>G , CM000679.1:g.7915471C>G GRCh37
NC_000017.9:g.7856196C>G NCBI36
NG_009092.1:g.14484C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.1759C>G MANE Select ENSP00000254854.4:p.Leu587Val
ENST00000254854.4:c.1759C>G ENSP00000254854.4:p.Leu587Val
NM_000180.3:c.1759C>G NP_000171.1:p.Leu587Val
XM_011523816.1:c.1759C>G XP_011522118.1:p.Leu587Val
NM_000180.4:c.1759C>G MANE Select NP_000171.1:p.Leu587Val
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