Canonical Allele Identifier: CA3003794

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88036262G>A , CM000666.2:g.88036262G>A	GRCh38
NC_000004.11:g.88957414G>A , CM000666.1:g.88957414G>A	GRCh37
NC_000004.10:g.89176438G>A	NCBI36
NG_008604.1:g.33595G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.752G>A MANE Select	NP_000288.1:p.Arg251Gln
ENST00000237596.7:c.752G>A MANE Select	ENSP00000237596.2:p.Arg251Gln
NM_000297.3:c.752G>A	NP_000288.1:p.Arg251Gln
NR_156488.1:n.839G>A
NR_156488.2:n.851G>A
ENST00000237596.6:c.752G>A	ENSP00000237596.2:p.Arg251Gln
ENST00000506367.1:n.199G>A
ENST00000506727.1:n.338G>A
XM_011532028.1:c.752G>A	XP_011530330.1:p.Arg251Gln
XM_011532028.2:c.752G>A	XP_011530330.1:p.Arg251Gln
XM_011532029.1:c.32G>A	XP_011530331.1:p.Arg11Gln
XM_011532030.2:c.-216G>A	XP_011530332.1:n.-216G>A
XR_244632.2:n.847G>A