Canonical Allele Identifier: CA357623165

Gene: PKD2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88058044C>T , CM000666.2:g.88058044C>T	GRCh38
NC_000004.11:g.88979196C>T , CM000666.1:g.88979196C>T	GRCh37
NC_000004.10:g.89198220C>T	NCBI36
NG_008604.1:g.55377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1960C>T MANE Select	ENSP00000237596.2:p.Arg654Ter
ENST00000237596.6:c.1960C>T	ENSP00000237596.2:p.Arg654Ter
ENST00000502363.1:c.214C>T	ENSP00000425289.1:p.Arg72Ter
ENST00000508588.5:c.214C>T	ENSP00000427131.1:p.Arg72Ter
ENST00000511337.5:n.271+1777C>T
ENST00000512858.1:n.231+1777C>T
NM_000297.3:c.1960C>T	NP_000288.1:p.Arg654Ter
XM_011532028.1:c.1735C>T	XP_011530330.1:p.Arg579Ter
XM_011532029.1:c.1240C>T	XP_011530331.1:p.Arg414Ter
XM_011532030.1:c.1120C>T	XP_011530332.1:p.Arg374Ter
XR_244632.2:n.1993+1777C>T
NR_156488.1:n.1985+1777C>T
XM_011532028.2:c.1735C>T	XP_011530330.1:p.Arg579Ter
XM_011532030.2:c.1120C>T	XP_011530332.1:p.Arg374Ter
NM_000297.4:c.1960C>T MANE Select	NP_000288.1:p.Arg654Ter
NR_156488.2:n.1997+1777C>T