Canonical Allele Identifier: CA226154

Gene: GUCY2D

Linked Data

• ClinVar Variation Id: 98609
• ClinVar RCV Id: RCV000084905 ; RCV001250872 ; RCV002513910
• dbSNP Id: rs61749663
• gnomAD v2: 17-7906451-T-TC
• gnomAD v3: 17-8003133-T-TC
• gnomAD v4: 17-8003133-T-TC
• MyVariant Identifiers: chr17:g.7906452dupC (hg19) ; chr17:g.7906451_7906452insC (hg19) ; chr17:g.8003134dupC (hg38) ; chr17:g.8003133_8003134insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8003138dup , CM000679.2:g.8003138dup	GRCh38
NC_000017.10:g.7906456dup , CM000679.1:g.7906456dup	GRCh37
NC_000017.9:g.7847181dup	NCBI36
NG_009092.1:g.5469dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254854.5:c.91dup MANE Select	ENSP00000254854.4:p.Arg31ProfsTer?
ENST00000254854.4:c.91dup	ENSP00000254854.4:p.Arg31ProfsTer?
NM_000180.3:c.91dup	NP_000171.1:p.Arg31ProfsTer?
XM_011523816.1:c.91dup	XP_011522118.1:p.Arg31ProfsTer?
NM_000180.4:c.91dup MANE Select	NP_000171.1:p.Arg31ProfsTer?