Canonical Allele Identifier: CA3003965

Gene: PKD2

Linked Data

• ClinVar Variation Id: 237628
• ClinVar RCV Id: RCV000228624 ; RCV000507467 ; RCV001292183 ; RCV001253821
• dbSNP Id: rs143581690
• ExAC: 4:88968020 G / T
• gnomAD v2: 4-88968020-G-T
• gnomAD v3: 4-88046868-G-T
• gnomAD v4: 4-88046868-G-T
• MyVariant Identifiers: chr4:g.88968020G>T (hg19) ; chr4:g.88046868G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046868G>T , CM000666.2:g.88046868G>T	GRCh38
NC_000004.11:g.88968020G>T , CM000666.1:g.88968020G>T	GRCh37
NC_000004.10:g.89187044G>T	NCBI36
NG_008604.1:g.44201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1546G>T MANE Select	ENSP00000237596.2:p.Val516Leu
ENST00000237596.6:c.1546G>T	ENSP00000237596.2:p.Val516Leu
ENST00000508588.5:c.-199+3411G>T	ENSP00000427131.1:n.-199+3411G>T
NM_000297.3:c.1546G>T	NP_000288.1:p.Val516Leu
XM_011532028.1:c.1321G>T	XP_011530330.1:p.Val441Leu
XM_011532029.1:c.826G>T	XP_011530331.1:p.Val276Leu
XM_011532030.1:c.706G>T	XP_011530332.1:p.Val236Leu
XR_244632.2:n.1641G>T
NR_156488.1:n.1633G>T
XM_011532028.2:c.1321G>T	XP_011530330.1:p.Val441Leu
XM_011532030.2:c.706G>T	XP_011530332.1:p.Val236Leu
NM_000297.4:c.1546G>T MANE Select	NP_000288.1:p.Val516Leu
NR_156488.2:n.1645G>T