Canonical Allele Identifier: CA357633020

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038425G>T , CM000666.2:g.88038425G>T	GRCh38
NC_000004.11:g.88959577G>T , CM000666.1:g.88959577G>T	GRCh37
NC_000004.10:g.89178601G>T	NCBI36
NG_008604.1:g.35758G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1018G>T MANE Select	NP_000288.1:p.Glu340Ter
ENST00000237596.7:c.1018G>T MANE Select	ENSP00000237596.2:p.Glu340Ter
NM_000297.3:c.1018G>T	NP_000288.1:p.Glu340Ter
NR_156488.1:n.1105G>T
NR_156488.2:n.1117G>T
ENST00000237596.6:c.1018G>T	ENSP00000237596.2:p.Glu340Ter
ENST00000506367.1:n.465G>T
XM_011532028.1:c.1018G>T	XP_011530330.1:p.Glu340Ter
XM_011532028.2:c.1018G>T	XP_011530330.1:p.Glu340Ter
XM_011532029.1:c.298G>T	XP_011530331.1:p.Glu100Ter
XM_011532030.1:c.178G>T	XP_011530332.1:p.Glu60Ter
XM_011532030.2:c.178G>T	XP_011530332.1:p.Glu60Ter
XR_244632.2:n.1113G>T