Canonical Allele Identifier: CA357626331

Gene: PKD2

Linked Data

• dbSNP Id: rs1578111445
• MyVariant Identifiers: chr4:g.88929237T>G (hg19) ; chr4:g.88008085T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008085T>G , CM000666.2:g.88008085T>G	GRCh38
NC_000004.11:g.88929237T>G , CM000666.1:g.88929237T>G	GRCh37
NC_000004.10:g.89148261T>G	NCBI36
NG_008604.1:g.5418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.352T>G MANE Select	ENSP00000237596.2:p.Trp118Gly
ENST00000237596.6:c.352T>G	ENSP00000237596.2:p.Trp118Gly
NM_000297.3:c.352T>G	NP_000288.1:p.Trp118Gly
XM_011532028.1:c.352T>G	XP_011530330.1:p.Trp118Gly
XR_244632.2:n.447T>G
NR_156488.1:n.439T>G
XM_011532028.2:c.352T>G	XP_011530330.1:p.Trp118Gly
NM_000297.4:c.352T>G MANE Select	NP_000288.1:p.Trp118Gly
NR_156488.2:n.451T>G