Canonical Allele Identifier: CA357633267

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038488C>T , CM000666.2:g.88038488C>T	GRCh38
NC_000004.11:g.88959640C>T , CM000666.1:g.88959640C>T	GRCh37
NC_000004.10:g.89178664C>T	NCBI36
NG_008604.1:g.35821C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1081C>T MANE Select	NP_000288.1:p.Arg361Ter
ENST00000237596.7:c.1081C>T MANE Select	ENSP00000237596.2:p.Arg361Ter
NM_000297.3:c.1081C>T	NP_000288.1:p.Arg361Ter
NR_156488.1:n.1168C>T
NR_156488.2:n.1180C>T
ENST00000237596.6:c.1081C>T	ENSP00000237596.2:p.Arg361Ter
ENST00000506367.1:n.528C>T
XM_011532028.1:c.1081C>T	XP_011530330.1:p.Arg361Ter
XM_011532028.2:c.1081C>T	XP_011530330.1:p.Arg361Ter
XM_011532029.1:c.361C>T	XP_011530331.1:p.Arg121Ter
XM_011532030.1:c.241C>T	XP_011530332.1:p.Arg81Ter
XM_011532030.2:c.241C>T	XP_011530332.1:p.Arg81Ter
XR_244632.2:n.1176C>T