Canonical Allele Identifier: CA1474562293

Gene: PKD2

Linked Data

• dbSNP Id: rs750077647
• gnomAD v4: 4-88008021-C-CGAGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008035_88008040dup , CM000666.2:g.88008035_88008040dup	GRCh38
NC_000004.11:g.88929187_88929192dup , CM000666.1:g.88929187_88929192dup	GRCh37
NC_000004.10:g.89148211_89148216dup	NCBI36
NG_008604.1:g.5368_5373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.302_307dup MANE Select	ENSP00000237596.2:p.Glu102_Val103insGluGlu
ENST00000237596.6:c.302_307dup	ENSP00000237596.2:p.Glu102_Val103insGluGlu
NM_000297.3:c.302_307dup	NP_000288.1:p.Glu102_Val103insGluGlu
XM_011532028.1:c.302_307dup	XP_011530330.1:p.Glu102_Val103insGluGlu
XR_244632.2:n.397_402dup
NR_156488.1:n.389_394dup
XM_011532028.2:c.302_307dup	XP_011530330.1:p.Glu102_Val103insGluGlu
NM_000297.4:c.302_307dup MANE Select	NP_000288.1:p.Glu102_Val103insGluGlu
NR_156488.2:n.401_406dup