Canonical Allele Identifier: CA357618534

Gene: PKD2

Linked Data

• ClinVar Variation Id: 636955
• ClinVar RCV Id: RCV000788930 ; RCV002470979
• dbSNP Id: rs1578135842
• MyVariant Identifiers: chr4:g.88967823G>A (hg19) ; chr4:g.88046671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046671G>A , CM000666.2:g.88046671G>A	GRCh38
NC_000004.11:g.88967823G>A , CM000666.1:g.88967823G>A	GRCh37
NC_000004.10:g.89186847G>A	NCBI36
NG_008604.1:g.44004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1349G>A MANE Select	ENSP00000237596.2:p.Gly450Asp
ENST00000237596.6:c.1349G>A	ENSP00000237596.2:p.Gly450Asp
ENST00000508588.5:c.-199+3214G>A	ENSP00000427131.1:n.-199+3214G>A
NM_000297.3:c.1349G>A	NP_000288.1:p.Gly450Asp
XM_011532028.1:c.1124G>A	XP_011530330.1:p.Gly375Asp
XM_011532029.1:c.629G>A	XP_011530331.1:p.Gly210Asp
XM_011532030.1:c.509G>A	XP_011530332.1:p.Gly170Asp
XR_244632.2:n.1444G>A
NR_156488.1:n.1436G>A
XM_011532028.2:c.1124G>A	XP_011530330.1:p.Gly375Asp
XM_011532030.2:c.509G>A	XP_011530332.1:p.Gly170Asp
NM_000297.4:c.1349G>A MANE Select	NP_000288.1:p.Gly450Asp
NR_156488.2:n.1448G>A