Canonical Allele Identifier: CA3003851

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038372G>A , CM000666.2:g.88038372G>A	GRCh38
NC_000004.11:g.88959524G>A , CM000666.1:g.88959524G>A	GRCh37
NC_000004.10:g.89178548G>A	NCBI36
NG_008604.1:g.35705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.965G>A MANE Select	ENSP00000237596.2:p.Arg322Gln
ENST00000237596.6:c.965G>A	ENSP00000237596.2:p.Arg322Gln
ENST00000506367.1:n.412G>A
NM_000297.3:c.965G>A	NP_000288.1:p.Arg322Gln
XM_011532028.1:c.965G>A	XP_011530330.1:p.Arg322Gln
XM_011532029.1:c.245G>A	XP_011530331.1:p.Arg82Gln
XM_011532030.1:c.125G>A	XP_011530332.1:p.Arg42Gln
XR_244632.2:n.1060G>A
NR_156488.1:n.1052G>A
XM_011532028.2:c.965G>A	XP_011530330.1:p.Arg322Gln
XM_011532030.2:c.125G>A	XP_011530332.1:p.Arg42Gln
NM_000297.4:c.965G>A MANE Select	NP_000288.1:p.Arg322Gln
NR_156488.2:n.1064G>A