Canonical Allele Identifier: CA3003905

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043361G>T , CM000666.2:g.88043361G>T	GRCh38
NC_000004.11:g.88964513G>T , CM000666.1:g.88964513G>T	GRCh37
NC_000004.10:g.89183537G>T	NCBI36
NG_008604.1:g.40694G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1223G>T MANE Select	NP_000288.1:p.Ser408Ile
ENST00000237596.7:c.1223G>T MANE Select	ENSP00000237596.2:p.Ser408Ile
NM_000297.3:c.1223G>T	NP_000288.1:p.Ser408Ile
NR_156488.1:n.1310G>T
NR_156488.2:n.1322G>T
ENST00000237596.6:c.1223G>T	ENSP00000237596.2:p.Ser408Ile
ENST00000506367.1:n.670G>T
ENST00000508588.5:c.-295G>T	ENSP00000427131.1:n.-295G>T
XM_011532028.1:c.1095-3281G>T	XP_011530330.1:n.1095-3281G>T
XM_011532028.2:c.1095-3281G>T	XP_011530330.1:n.1095-3281G>T
XM_011532029.1:c.503G>T	XP_011530331.1:p.Ser168Ile
XM_011532030.1:c.383G>T	XP_011530332.1:p.Ser128Ile
XM_011532030.2:c.383G>T	XP_011530332.1:p.Ser128Ile
XR_244632.2:n.1318G>T