Canonical Allele Identifier: CA357632332

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959428G>A (hg19) ; chr4:g.88038276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038276G>A , CM000666.2:g.88038276G>A	GRCh38
NC_000004.11:g.88959428G>A , CM000666.1:g.88959428G>A	GRCh37
NC_000004.10:g.89178452G>A	NCBI36
NG_008604.1:g.35609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.869G>A MANE Select	ENSP00000237596.2:p.Gly290Glu
ENST00000237596.6:c.869G>A	ENSP00000237596.2:p.Gly290Glu
ENST00000506367.1:n.316G>A
ENST00000506727.1:n.455G>A
NM_000297.3:c.869G>A	NP_000288.1:p.Gly290Glu
XM_011532028.1:c.869G>A	XP_011530330.1:p.Gly290Glu
XM_011532029.1:c.149G>A	XP_011530331.1:p.Gly50Glu
XM_011532030.1:c.29G>A	XP_011530332.1:p.Gly10Glu
XR_244632.2:n.964G>A
NR_156488.1:n.956G>A
XM_011532028.2:c.869G>A	XP_011530330.1:p.Gly290Glu
XM_011532030.2:c.29G>A	XP_011530332.1:p.Gly10Glu
NM_000297.4:c.869G>A MANE Select	NP_000288.1:p.Gly290Glu
NR_156488.2:n.968G>A