Canonical Allele Identifier: CA349584

Gene: PKD2

Linked Data

• ClinVar Variation Id: 219942
• ClinVar RCV Id: RCV000205418 ; RCV001519459
• dbSNP Id: rs750077647
• ExAC: 4:88929173 CGAG / C
• gnomAD v2: 4-88929173-CGAG-C
• gnomAD v3: 4-88008021-CGAG-C
• gnomAD v4: 4-88008021-CGAG-C
• COSMIC: COSM5866915
• MyVariant Identifiers: chr4:g.88929177_88929179del (hg19) ; chr4:g.88929174_88929176del (hg19) ; chr4:g.88008025_88008027del (hg38) ; chr4:g.88008022_88008024del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008038_88008040del , CM000666.2:g.88008038_88008040del	GRCh38
NC_000004.11:g.88929190_88929192del , CM000666.1:g.88929190_88929192del	GRCh37
NC_000004.10:g.89148214_89148216del	NCBI36
NG_008604.1:g.5371_5373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.305_307del MANE Select	ENSP00000237596.2:p.Glu102del
ENST00000237596.6:c.305_307del	ENSP00000237596.2:p.Glu102del
NM_000297.3:c.305_307del	NP_000288.1:p.Glu102del
XM_011532028.1:c.305_307del	XP_011530330.1:p.Glu102del
XR_244632.2:n.400_402del
NR_156488.1:n.392_394del
XM_011532028.2:c.305_307del	XP_011530330.1:p.Glu102del
NM_000297.4:c.305_307del MANE Select	NP_000288.1:p.Glu102del
NR_156488.2:n.404_406del