Canonical Allele Identifier: CA3003846

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038352G>A , CM000666.2:g.88038352G>A	GRCh38
NC_000004.11:g.88959504G>A , CM000666.1:g.88959504G>A	GRCh37
NC_000004.10:g.89178528G>A	NCBI36
NG_008604.1:g.35685G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.945G>A MANE Select	NP_000288.1:p.Leu315=
ENST00000237596.7:c.945G>A MANE Select	ENSP00000237596.2:p.Leu315=
NM_000297.3:c.945G>A	NP_000288.1:p.Leu315=
NR_156488.1:n.1032G>A
NR_156488.2:n.1044G>A
ENST00000237596.6:c.945G>A	ENSP00000237596.2:p.Leu315=
ENST00000506367.1:n.392G>A
ENST00000506727.1:n.531G>A
XM_011532028.1:c.945G>A	XP_011530330.1:p.Leu315=
XM_011532028.2:c.945G>A	XP_011530330.1:p.Leu315=
XM_011532029.1:c.225G>A	XP_011530331.1:p.Leu75=
XM_011532030.1:c.105G>A	XP_011530332.1:p.Leu35=
XM_011532030.2:c.105G>A	XP_011530332.1:p.Leu35=
XR_244632.2:n.1040G>A