Canonical Allele Identifier: CA2671365985

Gene: PKD2

Linked Data

• gnomAD v4: 4-88043271-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043273del , CM000666.2:g.88043273del	GRCh38
NC_000004.11:g.88964425del , CM000666.1:g.88964425del	GRCh37
NC_000004.10:g.89183449del	NCBI36
NG_008604.1:g.40606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1135del MANE Select	ENSP00000237596.2:p.His379ThrfsTer?
ENST00000237596.6:c.1135del	ENSP00000237596.2:p.His379ThrfsTer?
ENST00000506367.1:n.582del
ENST00000508588.5:c.-383del	ENSP00000427131.1:n.-383del
NM_000297.3:c.1135del	NP_000288.1:p.His379ThrfsTer?
XM_011532028.1:c.1095-3369del	XP_011530330.1:n.1095-3369del
XM_011532029.1:c.415del	XP_011530331.1:p.His139ThrfsTer?
XM_011532030.1:c.295del	XP_011530332.1:p.His99ThrfsTer?
XR_244632.2:n.1230del
NR_156488.1:n.1222del
XM_011532028.2:c.1095-3369del	XP_011530330.1:n.1095-3369del
XM_011532030.2:c.295del	XP_011530332.1:p.His99ThrfsTer?
NM_000297.4:c.1135del MANE Select	NP_000288.1:p.His379ThrfsTer?
NR_156488.2:n.1234del