Canonical Allele Identifier: CA348825

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067959G>A , CM000666.2:g.88067959G>A	GRCh38
NC_000004.11:g.88989111G>A , CM000666.1:g.88989111G>A	GRCh37
NC_000004.10:g.89208135G>A	NCBI36
NG_008604.1:g.65292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2420G>A MANE Select	ENSP00000237596.2:p.Arg807Gln
ENST00000237596.6:c.2420G>A	ENSP00000237596.2:p.Arg807Gln
ENST00000502363.1:c.674G>A	ENSP00000425289.1:p.Arg225Gln
ENST00000508588.5:c.674G>A	ENSP00000427131.1:p.Arg225Gln
ENST00000511337.5:n.672G>A
ENST00000512858.1:n.898G>A
NM_000297.3:c.2420G>A	NP_000288.1:p.Arg807Gln
XM_011532028.1:c.2195G>A	XP_011530330.1:p.Arg732Gln
XM_011532029.1:c.1700G>A	XP_011530331.1:p.Arg567Gln
XM_011532030.1:c.1580G>A	XP_011530332.1:p.Arg527Gln
NR_156488.1:n.2386G>A
XM_011532028.2:c.2195G>A	XP_011530330.1:p.Arg732Gln
XM_011532030.2:c.1580G>A	XP_011530332.1:p.Arg527Gln
NM_000297.4:c.2420G>A MANE Select	NP_000288.1:p.Arg807Gln
NR_156488.2:n.2398G>A