Canonical Allele Identifier: CA357618987

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2245972
• ClinVar RCV Id: RCV002738046
• MyVariant Identifiers: chr4:g.88967879T>G (hg19) ; chr4:g.88046727T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046727T>G , CM000666.2:g.88046727T>G	GRCh38
NC_000004.11:g.88967879T>G , CM000666.1:g.88967879T>G	GRCh37
NC_000004.10:g.89186903T>G	NCBI36
NG_008604.1:g.44060T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1405T>G MANE Select	ENSP00000237596.2:p.Phe469Val
ENST00000237596.6:c.1405T>G	ENSP00000237596.2:p.Phe469Val
ENST00000508588.5:c.-199+3270T>G	ENSP00000427131.1:n.-199+3270T>G
NM_000297.3:c.1405T>G	NP_000288.1:p.Phe469Val
XM_011532028.1:c.1180T>G	XP_011530330.1:p.Phe394Val
XM_011532029.1:c.685T>G	XP_011530331.1:p.Phe229Val
XM_011532030.1:c.565T>G	XP_011530332.1:p.Phe189Val
XR_244632.2:n.1500T>G
NR_156488.1:n.1492T>G
XM_011532028.2:c.1180T>G	XP_011530330.1:p.Phe394Val
XM_011532030.2:c.565T>G	XP_011530332.1:p.Phe189Val
NM_000297.4:c.1405T>G MANE Select	NP_000288.1:p.Phe469Val
NR_156488.2:n.1504T>G