Canonical Allele Identifier: CA357627240

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929477C>G (hg19) ; chr4:g.88008325C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008325C>G , CM000666.2:g.88008325C>G	GRCh38
NC_000004.11:g.88929477C>G , CM000666.1:g.88929477C>G	GRCh37
NC_000004.10:g.89148501C>G	NCBI36
NG_008604.1:g.5658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.592C>G MANE Select	ENSP00000237596.2:p.Arg198Gly
ENST00000237596.6:c.592C>G	ENSP00000237596.2:p.Arg198Gly
ENST00000506727.1:n.94C>G
NM_000297.3:c.592C>G	NP_000288.1:p.Arg198Gly
XM_011532028.1:c.592C>G	XP_011530330.1:p.Arg198Gly
XR_244632.2:n.687C>G
NR_156488.1:n.679C>G
XM_011532028.2:c.592C>G	XP_011530330.1:p.Arg198Gly
NM_000297.4:c.592C>G MANE Select	NP_000288.1:p.Arg198Gly
NR_156488.2:n.691C>G