Canonical Allele Identifier: CA3004147

Gene: PKD2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065414del , CM000666.2:g.88065414del	GRCh38
NC_000004.11:g.88986566del , CM000666.1:g.88986566del	GRCh37
NC_000004.10:g.89205590del	NCBI36
NG_008604.1:g.62747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2159del MANE Select	ENSP00000237596.2:p.Asn720IlefsTer17
ENST00000237596.6:c.2159del	ENSP00000237596.2:p.Asn720IlefsTer17
ENST00000502363.1:c.413del	ENSP00000425289.1:p.Asn138IlefsTer17
ENST00000508588.5:c.413del	ENSP00000427131.1:p.Asn138IlefsTer17
ENST00000511337.5:n.411del
ENST00000512858.1:n.371del
NM_000297.3:c.2159del	NP_000288.1:p.Asn720IlefsTer17
XM_011532028.1:c.1934del	XP_011530330.1:p.Asn645IlefsTer17
XM_011532029.1:c.1439del	XP_011530331.1:p.Asn480IlefsTer17
XM_011532030.1:c.1319del	XP_011530332.1:p.Asn440IlefsTer17
NR_156488.1:n.2125del
XM_011532028.2:c.1934del	XP_011530330.1:p.Asn645IlefsTer17
XM_011532030.2:c.1319del	XP_011530332.1:p.Asn440IlefsTer17
NM_000297.4:c.2159del MANE Select	NP_000288.1:p.Asn720IlefsTer17
NR_156488.2:n.2137del