Canonical Allele Identifier: CA624867861

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 2945776
• ClinVar RCV Id: RCV003803870
• dbSNP Id: rs1191859493
• gnomAD v2: 17-7915687-T-G
• gnomAD v3: 17-8012369-T-G
• gnomAD v4: 17-8012369-T-G
• MyVariant Identifiers: chr17:g.7915687T>G (hg19) ; chr17:g.8012369T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8012369T>G , CM000679.2:g.8012369T>G	GRCh38
NC_000017.10:g.7915687T>G , CM000679.1:g.7915687T>G	GRCh37
NC_000017.9:g.7856412T>G	NCBI36
NG_009092.1:g.14700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1956+19T>G MANE Select	ENSP00000254854.4:n.1956+19T>G
ENST00000254854.4:c.1956+19T>G	ENSP00000254854.4:n.1956+19T>G
NM_000180.3:c.1956+19T>G	NP_000171.1:n.1956+19T>G
XM_011523816.1:c.1956+19T>G	XP_011522118.1:n.1956+19T>G
NM_000180.4:c.1956+19T>G MANE Select	NP_000171.1:n.1956+19T>G