Canonical Allele Identifier: CA287530833

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 2137915
• ClinVar RCV Id: RCV003064395 ; RCV003992701
• dbSNP Id: rs940175403
• gnomAD v3: 17-8012156-C-T
• gnomAD v4: 17-8012156-C-T
• COSMIC: COSM3764644
• MyVariant Identifiers: chr17:g.7915474C>T (hg19) ; chr17:g.8012156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012156C>T , CM000679.2:g.8012156C>T	GRCh38
NC_000017.10:g.7915474C>T , CM000679.1:g.7915474C>T	GRCh37
NC_000017.9:g.7856199C>T	NCBI36
NG_009092.1:g.14487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1762C>T MANE Select	ENSP00000254854.4:p.Arg588Trp
ENST00000254854.4:c.1762C>T	ENSP00000254854.4:p.Arg588Trp
NM_000180.3:c.1762C>T	NP_000171.1:p.Arg588Trp
XM_011523816.1:c.1762C>T	XP_011522118.1:p.Arg588Trp
NM_000180.4:c.1762C>T MANE Select	NP_000171.1:p.Arg588Trp