Canonical Allele Identifier: CA350573

Gene: PKD2

Linked Data

• ClinVar Variation Id: 219481
• ClinVar RCV Id: RCV000244662 ; RCV000712679 ; RCV001001706 ; RCV001080594 ; RCV001292488
• dbSNP Id: rs75762896
• ExAC: 4:88967919 T / G
• gnomAD v2: 4-88967919-T-G
• gnomAD v3: 4-88046767-T-G
• gnomAD v4: 4-88046767-T-G
• MyVariant Identifiers: chr4:g.88967919T>G (hg19) ; chr4:g.88046767T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046767T>G , CM000666.2:g.88046767T>G	GRCh38
NC_000004.11:g.88967919T>G , CM000666.1:g.88967919T>G	GRCh37
NC_000004.10:g.89186943T>G	NCBI36
NG_008604.1:g.44100T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1445T>G MANE Select	ENSP00000237596.2:p.Phe482Cys
ENST00000237596.6:c.1445T>G	ENSP00000237596.2:p.Phe482Cys
ENST00000508588.5:c.-199+3310T>G	ENSP00000427131.1:n.-199+3310T>G
NM_000297.3:c.1445T>G	NP_000288.1:p.Phe482Cys
XM_011532028.1:c.1220T>G	XP_011530330.1:p.Phe407Cys
XM_011532029.1:c.725T>G	XP_011530331.1:p.Phe242Cys
XM_011532030.1:c.605T>G	XP_011530332.1:p.Phe202Cys
XR_244632.2:n.1540T>G
NR_156488.1:n.1532T>G
XM_011532028.2:c.1220T>G	XP_011530330.1:p.Phe407Cys
XM_011532030.2:c.605T>G	XP_011530332.1:p.Phe202Cys
NM_000297.4:c.1445T>G MANE Select	NP_000288.1:p.Phe482Cys
NR_156488.2:n.1544T>G