Canonical Allele Identifier: CA3003937

Gene: PKD2

Linked Data

• ClinVar Variation Id: 350022
• ClinVar RCV Id: RCV000269868 ; RCV001253823 ; RCV001292296 ; RCV001706567
• dbSNP Id: rs1801612
• ExAC: 4:88967828 A / G
• gnomAD v2: 4-88967828-A-G
• gnomAD v3: 4-88046676-A-G
• gnomAD v4: 4-88046676-A-G
• MyVariant Identifiers: chr4:g.88967828A>G (hg19) ; chr4:g.88046676A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046676A>G , CM000666.2:g.88046676A>G	GRCh38
NC_000004.11:g.88967828A>G , CM000666.1:g.88967828A>G	GRCh37
NC_000004.10:g.89186852A>G	NCBI36
NG_008604.1:g.44009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1354A>G MANE Select	ENSP00000237596.2:p.Ile452Val
ENST00000237596.6:c.1354A>G	ENSP00000237596.2:p.Ile452Val
ENST00000508588.5:c.-199+3219A>G	ENSP00000427131.1:n.-199+3219A>G
NM_000297.3:c.1354A>G	NP_000288.1:p.Ile452Val
XM_011532028.1:c.1129A>G	XP_011530330.1:p.Ile377Val
XM_011532029.1:c.634A>G	XP_011530331.1:p.Ile212Val
XM_011532030.1:c.514A>G	XP_011530332.1:p.Ile172Val
XR_244632.2:n.1449A>G
NR_156488.1:n.1441A>G
XM_011532028.2:c.1129A>G	XP_011530330.1:p.Ile377Val
XM_011532030.2:c.514A>G	XP_011530332.1:p.Ile172Val
NM_000297.4:c.1354A>G MANE Select	NP_000288.1:p.Ile452Val
NR_156488.2:n.1453A>G