Canonical Allele Identifier: CA440268375

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.88065414dup , CM000666.2:g.88065414dup	GRCh38
NC_000004.11:g.88986566dup , CM000666.1:g.88986566dup	GRCh37
NC_000004.10:g.89205590dup	NCBI36
NG_008604.1:g.62747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2159dup MANE Select	ENSP00000237596.2:p.Asn720LysfsTer5
ENST00000237596.6:c.2159dup	ENSP00000237596.2:p.Asn720LysfsTer5
ENST00000502363.1:c.413dup	ENSP00000425289.1:p.Asn138LysfsTer5
ENST00000508588.5:c.413dup	ENSP00000427131.1:p.Asn138LysfsTer5
ENST00000511337.5:n.411dup
ENST00000512858.1:n.371dup
NM_000297.3:c.2159dup	NP_000288.1:p.Asn720LysfsTer5
XM_011532028.1:c.1934dup	XP_011530330.1:p.Asn645LysfsTer5
XM_011532029.1:c.1439dup	XP_011530331.1:p.Asn480LysfsTer5
XM_011532030.1:c.1319dup	XP_011530332.1:p.Asn440LysfsTer5
NR_156488.1:n.2125dup
XM_011532028.2:c.1934dup	XP_011530330.1:p.Asn645LysfsTer5
XM_011532030.2:c.1319dup	XP_011530332.1:p.Asn440LysfsTer5
NM_000297.4:c.2159dup MANE Select	NP_000288.1:p.Asn720LysfsTer5
NR_156488.2:n.2137dup