Canonical Allele Identifier: CA645519978

Gene: PKD2

Linked Data

• COSMIC: COSM6168352

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038392_88038393delinsTT , CM000666.2:g.88038392_88038393delinsTT	GRCh38
NC_000004.11:g.88959544_88959545delinsTT , CM000666.1:g.88959544_88959545delinsTT	GRCh37
NC_000004.10:g.89178568_89178569delinsTT	NCBI36
NG_008604.1:g.35725_35726delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.985_986delinsTT MANE Select	ENSP00000237596.2:p.Gly329Leu
ENST00000237596.6:c.985_986delinsTT	ENSP00000237596.2:p.Gly329Leu
ENST00000506367.1:n.432_433delinsTT
NM_000297.3:c.985_986delinsTT	NP_000288.1:p.Gly329Leu
XM_011532028.1:c.985_986delinsTT	XP_011530330.1:p.Gly329Leu
XM_011532029.1:c.265_266delinsTT	XP_011530331.1:p.Gly89Leu
XM_011532030.1:c.145_146delinsTT	XP_011530332.1:p.Gly49Leu
XR_244632.2:n.1080_1081delinsTT
NR_156488.1:n.1072_1073delinsTT
XM_011532028.2:c.985_986delinsTT	XP_011530330.1:p.Gly329Leu
XM_011532030.2:c.145_146delinsTT	XP_011530332.1:p.Gly49Leu
NM_000297.4:c.985_986delinsTT MANE Select	NP_000288.1:p.Gly329Leu
NR_156488.2:n.1084_1085delinsTT