Canonical Allele Identifier: CA357622772

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88056165G>A , CM000666.2:g.88056165G>A	GRCh38
NC_000004.11:g.88977317G>A , CM000666.1:g.88977317G>A	GRCh37
NC_000004.10:g.89196341G>A	NCBI36
NG_008604.1:g.53498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1796G>A MANE Select	ENSP00000237596.2:p.Gly599Asp
ENST00000237596.6:c.1796G>A	ENSP00000237596.2:p.Gly599Asp
ENST00000502363.1:c.50G>A	ENSP00000425289.1:p.Gly17Asp
ENST00000508588.5:c.50G>A	ENSP00000427131.1:p.Gly17Asp
ENST00000511337.5:n.169G>A
ENST00000512858.1:n.129G>A
NM_000297.3:c.1796G>A	NP_000288.1:p.Gly599Asp
XM_011532028.1:c.1571G>A	XP_011530330.1:p.Gly524Asp
XM_011532029.1:c.1076G>A	XP_011530331.1:p.Gly359Asp
XM_011532030.1:c.956G>A	XP_011530332.1:p.Gly319Asp
XR_244632.2:n.1891G>A
NR_156488.1:n.1883G>A
XM_011532028.2:c.1571G>A	XP_011530330.1:p.Gly524Asp
XM_011532030.2:c.956G>A	XP_011530332.1:p.Gly319Asp
NM_000297.4:c.1796G>A MANE Select	NP_000288.1:p.Gly599Asp
NR_156488.2:n.1895G>A