Canonical Allele Identifier: CA3003856

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038401T>G , CM000666.2:g.88038401T>G	GRCh38
NC_000004.11:g.88959553T>G , CM000666.1:g.88959553T>G	GRCh37
NC_000004.10:g.89178577T>G	NCBI36
NG_008604.1:g.35734T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.994T>G MANE Select	NP_000288.1:p.Ser332Ala
ENST00000237596.7:c.994T>G MANE Select	ENSP00000237596.2:p.Ser332Ala
NM_000297.3:c.994T>G	NP_000288.1:p.Ser332Ala
NR_156488.1:n.1081T>G
NR_156488.2:n.1093T>G
ENST00000237596.6:c.994T>G	ENSP00000237596.2:p.Ser332Ala
ENST00000506367.1:n.441T>G
XM_011532028.1:c.994T>G	XP_011530330.1:p.Ser332Ala
XM_011532028.2:c.994T>G	XP_011530330.1:p.Ser332Ala
XM_011532029.1:c.274T>G	XP_011530331.1:p.Ser92Ala
XM_011532030.1:c.154T>G	XP_011530332.1:p.Ser52Ala
XM_011532030.2:c.154T>G	XP_011530332.1:p.Ser52Ala
XR_244632.2:n.1089T>G