Canonical Allele Identifier: CA357618629

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046687G>A , CM000666.2:g.88046687G>A	GRCh38
NC_000004.11:g.88967839G>A , CM000666.1:g.88967839G>A	GRCh37
NC_000004.10:g.89186863G>A	NCBI36
NG_008604.1:g.44020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1365G>A MANE Select	ENSP00000237596.2:p.Trp455Ter
ENST00000237596.6:c.1365G>A	ENSP00000237596.2:p.Trp455Ter
ENST00000508588.5:c.-199+3230G>A	ENSP00000427131.1:n.-199+3230G>A
NM_000297.3:c.1365G>A	NP_000288.1:p.Trp455Ter
XM_011532028.1:c.1140G>A	XP_011530330.1:p.Trp380Ter
XM_011532029.1:c.645G>A	XP_011530331.1:p.Trp215Ter
XM_011532030.1:c.525G>A	XP_011530332.1:p.Trp175Ter
XR_244632.2:n.1460G>A
NR_156488.1:n.1452G>A
XM_011532028.2:c.1140G>A	XP_011530330.1:p.Trp380Ter
XM_011532030.2:c.525G>A	XP_011530332.1:p.Trp175Ter
NM_000297.4:c.1365G>A MANE Select	NP_000288.1:p.Trp455Ter
NR_156488.2:n.1464G>A