Canonical Allele Identifier: CA100891463

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038464G>A , CM000666.2:g.88038464G>A	GRCh38
NC_000004.11:g.88959616G>A , CM000666.1:g.88959616G>A	GRCh37
NC_000004.10:g.89178640G>A	NCBI36
NG_008604.1:g.35797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1057G>A MANE Select	ENSP00000237596.2:p.Glu353Lys
ENST00000237596.6:c.1057G>A	ENSP00000237596.2:p.Glu353Lys
ENST00000506367.1:n.504G>A
NM_000297.3:c.1057G>A	NP_000288.1:p.Glu353Lys
XM_011532028.1:c.1057G>A	XP_011530330.1:p.Glu353Lys
XM_011532029.1:c.337G>A	XP_011530331.1:p.Glu113Lys
XM_011532030.1:c.217G>A	XP_011530332.1:p.Glu73Lys
XR_244632.2:n.1152G>A
NR_156488.1:n.1144G>A
XM_011532028.2:c.1057G>A	XP_011530330.1:p.Glu353Lys
XM_011532030.2:c.217G>A	XP_011530332.1:p.Glu73Lys
NM_000297.4:c.1057G>A MANE Select	NP_000288.1:p.Glu353Lys
NR_156488.2:n.1156G>A