Canonical Allele Identifier: CA3003958

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046843G>A , CM000666.2:g.88046843G>A	GRCh38
NC_000004.11:g.88967995G>A , CM000666.1:g.88967995G>A	GRCh37
NC_000004.10:g.89187019G>A	NCBI36
NG_008604.1:g.44176G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1521G>A MANE Select	NP_000288.1:p.Trp507Ter
ENST00000237596.7:c.1521G>A MANE Select	ENSP00000237596.2:p.Trp507Ter
NM_000297.3:c.1521G>A	NP_000288.1:p.Trp507Ter
NR_156488.1:n.1608G>A
NR_156488.2:n.1620G>A
ENST00000237596.6:c.1521G>A	ENSP00000237596.2:p.Trp507Ter
ENST00000508588.5:c.-199+3386G>A	ENSP00000427131.1:n.-199+3386G>A
XM_011532028.1:c.1296G>A	XP_011530330.1:p.Trp432Ter
XM_011532028.2:c.1296G>A	XP_011530330.1:p.Trp432Ter
XM_011532029.1:c.801G>A	XP_011530331.1:p.Trp267Ter
XM_011532030.1:c.681G>A	XP_011530332.1:p.Trp227Ter
XM_011532030.2:c.681G>A	XP_011530332.1:p.Trp227Ter
XR_244632.2:n.1616G>A