Canonical Allele Identifier: CA100883652

Gene: PKD2

Linked Data

• dbSNP Id: rs1005107425
• gnomAD v2: 4-88986632-G-A
• gnomAD v3: 4-88065480-G-A
• gnomAD v4: 4-88065480-G-A
• COSMIC: COSM6450509
• MyVariant Identifiers: chr4:g.88986632G>A (hg19) ; chr4:g.88065480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065480G>A , CM000666.2:g.88065480G>A	GRCh38
NC_000004.11:g.88986632G>A , CM000666.1:g.88986632G>A	GRCh37
NC_000004.10:g.89205656G>A	NCBI36
NG_008604.1:g.62813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2225G>A MANE Select	ENSP00000237596.2:p.Arg742Gln
ENST00000237596.6:c.2225G>A	ENSP00000237596.2:p.Arg742Gln
ENST00000502363.1:c.479G>A	ENSP00000425289.1:p.Arg160Gln
ENST00000508588.5:c.479G>A	ENSP00000427131.1:p.Arg160Gln
ENST00000511337.5:n.477G>A
ENST00000512858.1:n.437G>A
NM_000297.3:c.2225G>A	NP_000288.1:p.Arg742Gln
XM_011532028.1:c.2000G>A	XP_011530330.1:p.Arg667Gln
XM_011532029.1:c.1505G>A	XP_011530331.1:p.Arg502Gln
XM_011532030.1:c.1385G>A	XP_011530332.1:p.Arg462Gln
NR_156488.1:n.2191G>A
XM_011532028.2:c.2000G>A	XP_011530330.1:p.Arg667Gln
XM_011532030.2:c.1385G>A	XP_011530332.1:p.Arg462Gln
NM_000297.4:c.2225G>A MANE Select	NP_000288.1:p.Arg742Gln
NR_156488.2:n.2203G>A