Canonical Allele Identifier: CA2499217347

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1177372
• ClinVar RCV Id: RCV001533140
• dbSNP Id: rs2110112037

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043254dup , CM000666.2:g.88043254dup	GRCh38
NC_000004.11:g.88964406dup , CM000666.1:g.88964406dup	GRCh37
NC_000004.10:g.89183430dup	NCBI36
NG_008604.1:g.40587dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1116dup MANE Select	ENSP00000237596.2:p.Asp373ArgfsTer5
ENST00000237596.6:c.1116dup	ENSP00000237596.2:p.Asp373ArgfsTer5
ENST00000506367.1:n.563dup
NM_000297.3:c.1116dup	NP_000288.1:p.Asp373ArgfsTer5
XM_011532028.1:c.1095-3388dup	XP_011530330.1:n.1095-3388dup
XM_011532029.1:c.396dup	XP_011530331.1:p.Asp133ArgfsTer5
XM_011532030.1:c.276dup	XP_011530332.1:p.Asp93ArgfsTer5
XR_244632.2:n.1211dup
NR_156488.1:n.1203dup
XM_011532028.2:c.1095-3388dup	XP_011530330.1:n.1095-3388dup
XM_011532030.2:c.276dup	XP_011530332.1:p.Asp93ArgfsTer5
NM_000297.4:c.1116dup MANE Select	NP_000288.1:p.Asp373ArgfsTer5
NR_156488.2:n.1215dup