Canonical Allele Identifier: CA226049

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98544
• ClinVar RCV Id: RCV000084836 ; RCV001250861
• dbSNP Id: rs61749683
• ExAC: 17:7910848 T / C
• gnomAD v2: 17-7910848-T-C
• gnomAD v4: 17-8007530-T-C
• MyVariant Identifiers: chr17:g.7910848T>C (hg19) ; chr17:g.8007530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8007530T>C , CM000679.2:g.8007530T>C	GRCh38
NC_000017.10:g.7910848T>C , CM000679.1:g.7910848T>C	GRCh37
NC_000017.9:g.7851573T>C	NCBI36
NG_009092.1:g.9861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.1566+2T>C MANE Select	ENSP00000254854.4:n.1566+2T>C
ENST00000254854.4:c.1566+2T>C	ENSP00000254854.4:n.1566+2T>C
NM_000180.3:c.1566+2T>C	NP_000171.1:n.1566+2T>C
XM_011523816.1:c.1566+2T>C	XP_011522118.1:n.1566+2T>C
NM_000180.4:c.1566+2T>C MANE Select	NP_000171.1:n.1566+2T>C