Canonical Allele Identifier: CA1139658175

Gene: PKD2

Linked Data

• ClinVar Variation Id: 994722
• ClinVar RCV Id: RCV001288345
• dbSNP Id: rs1727649413

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043332_88043333del , CM000666.2:g.88043332_88043333del	GRCh38
NC_000004.11:g.88964484_88964485del , CM000666.1:g.88964484_88964485del	GRCh37
NC_000004.10:g.89183508_89183509del	NCBI36
NG_008604.1:g.40665_40666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1194_1195del MANE Select	ENSP00000237596.2:p.Glu400GlyfsTer8
ENST00000237596.6:c.1194_1195del	ENSP00000237596.2:p.Glu400GlyfsTer8
ENST00000506367.1:n.641_642del
ENST00000508588.5:c.-324_-323del	ENSP00000427131.1:n.-324_-323del
NM_000297.3:c.1194_1195del	NP_000288.1:p.Glu400GlyfsTer8
XM_011532028.1:c.1095-3310_1095-3309del	XP_011530330.1:n.1095-3310_1095-3309del
XM_011532029.1:c.474_475del	XP_011530331.1:p.Glu160GlyfsTer8
XM_011532030.1:c.354_355del	XP_011530332.1:p.Glu120GlyfsTer8
XR_244632.2:n.1289_1290del
NR_156488.1:n.1281_1282del
XM_011532028.2:c.1095-3310_1095-3309del	XP_011530330.1:n.1095-3310_1095-3309del
XM_011532030.2:c.354_355del	XP_011530332.1:p.Glu120GlyfsTer8
NM_000297.4:c.1194_1195del MANE Select	NP_000288.1:p.Glu400GlyfsTer8
NR_156488.2:n.1293_1294del