Canonical Allele Identifier: CA357632800

Gene: PKD2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.965G>T MANE Select	ENSP00000237596.2:p.Arg322Leu
ENST00000237596.6:c.965G>T	ENSP00000237596.2:p.Arg322Leu
ENST00000506367.1:n.412G>T
NM_000297.3:c.965G>T	NP_000288.1:p.Arg322Leu
XM_011532028.1:c.965G>T	XP_011530330.1:p.Arg322Leu
XM_011532029.1:c.245G>T	XP_011530331.1:p.Arg82Leu
XM_011532030.1:c.125G>T	XP_011530332.1:p.Arg42Leu
XR_244632.2:n.1060G>T
NR_156488.1:n.1052G>T
XM_011532028.2:c.965G>T	XP_011530330.1:p.Arg322Leu
XM_011532030.2:c.125G>T	XP_011530332.1:p.Arg42Leu
NM_000297.4:c.965G>T MANE Select	NP_000288.1:p.Arg322Leu
NR_156488.2:n.1064G>T