Canonical Allele Identifier: CA3003904

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2910942
• ClinVar RCV Id: RCV003747569
• dbSNP Id: rs763865791
• ExAC: 4:88964509 G / A
• gnomAD v2: 4-88964509-G-A
• gnomAD v3: 4-88043357-G-A
• gnomAD v4: 4-88043357-G-A
• MyVariant Identifiers: chr4:g.88964509G>A (hg19) ; chr4:g.88043357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043357G>A , CM000666.2:g.88043357G>A	GRCh38
NC_000004.11:g.88964509G>A , CM000666.1:g.88964509G>A	GRCh37
NC_000004.10:g.89183533G>A	NCBI36
NG_008604.1:g.40690G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1219G>A MANE Select	ENSP00000237596.2:p.Ala407Thr
ENST00000237596.6:c.1219G>A	ENSP00000237596.2:p.Ala407Thr
ENST00000506367.1:n.666G>A
ENST00000508588.5:c.-299G>A	ENSP00000427131.1:n.-299G>A
NM_000297.3:c.1219G>A	NP_000288.1:p.Ala407Thr
XM_011532028.1:c.1095-3285G>A	XP_011530330.1:n.1095-3285G>A
XM_011532029.1:c.499G>A	XP_011530331.1:p.Ala167Thr
XM_011532030.1:c.379G>A	XP_011530332.1:p.Ala127Thr
XR_244632.2:n.1314G>A
NR_156488.1:n.1306G>A
XM_011532028.2:c.1095-3285G>A	XP_011530330.1:n.1095-3285G>A
XM_011532030.2:c.379G>A	XP_011530332.1:p.Ala127Thr
NM_000297.4:c.1219G>A MANE Select	NP_000288.1:p.Ala407Thr
NR_156488.2:n.1318G>A