Canonical Allele Identifier: CA357632830

Gene: PKD2

Linked Data

• ClinVar Variation Id: 3030713
• ClinVar RCV Id: RCV003893869
• MyVariant Identifiers: chr4:g.88959532C>G (hg19) ; chr4:g.88038380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038380C>G , CM000666.2:g.88038380C>G	GRCh38
NC_000004.11:g.88959532C>G , CM000666.1:g.88959532C>G	GRCh37
NC_000004.10:g.89178556C>G	NCBI36
NG_008604.1:g.35713C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.973C>G MANE Select	ENSP00000237596.2:p.Arg325Gly
ENST00000237596.6:c.973C>G	ENSP00000237596.2:p.Arg325Gly
ENST00000506367.1:n.420C>G
NM_000297.3:c.973C>G	NP_000288.1:p.Arg325Gly
XM_011532028.1:c.973C>G	XP_011530330.1:p.Arg325Gly
XM_011532029.1:c.253C>G	XP_011530331.1:p.Arg85Gly
XM_011532030.1:c.133C>G	XP_011530332.1:p.Arg45Gly
XR_244632.2:n.1068C>G
NR_156488.1:n.1060C>G
XM_011532028.2:c.973C>G	XP_011530330.1:p.Arg325Gly
XM_011532030.2:c.133C>G	XP_011530332.1:p.Arg45Gly
NM_000297.4:c.973C>G MANE Select	NP_000288.1:p.Arg325Gly
NR_156488.2:n.1072C>G