Canonical Allele Identifier: CA3004011

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88052096G>C , CM000666.2:g.88052096G>C	GRCh38
NC_000004.11:g.88973248G>C , CM000666.1:g.88973248G>C	GRCh37
NC_000004.10:g.89192272G>C	NCBI36
NG_008604.1:g.49429G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1654G>C MANE Select	NP_000288.1:p.Ala552Pro
ENST00000237596.7:c.1654G>C MANE Select	ENSP00000237596.2:p.Ala552Pro
NM_000297.3:c.1654G>C	NP_000288.1:p.Ala552Pro
NR_156488.1:n.1741G>C
NR_156488.2:n.1753G>C
ENST00000237596.6:c.1654G>C	ENSP00000237596.2:p.Ala552Pro
ENST00000508588.5:c.-93G>C	ENSP00000427131.1:n.-93G>C
ENST00000511337.5:n.27G>C
XM_011532028.1:c.1429G>C	XP_011530330.1:p.Ala477Pro
XM_011532028.2:c.1429G>C	XP_011530330.1:p.Ala477Pro
XM_011532029.1:c.934G>C	XP_011530331.1:p.Ala312Pro
XM_011532030.1:c.814G>C	XP_011530332.1:p.Ala272Pro
XM_011532030.2:c.814G>C	XP_011530332.1:p.Ala272Pro
XR_244632.2:n.1749G>C