Canonical Allele Identifier: CA357626080

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008030-G-T
• MyVariant Identifiers: chr4:g.88929182G>T (hg19) ; chr4:g.88008030G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008030G>T , CM000666.2:g.88008030G>T	GRCh38
NC_000004.11:g.88929182G>T , CM000666.1:g.88929182G>T	GRCh37
NC_000004.10:g.89148206G>T	NCBI36
NG_008604.1:g.5363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.297G>T MANE Select	ENSP00000237596.2:p.Glu99Asp
ENST00000237596.6:c.297G>T	ENSP00000237596.2:p.Glu99Asp
NM_000297.3:c.297G>T	NP_000288.1:p.Glu99Asp
XM_011532028.1:c.297G>T	XP_011530330.1:p.Glu99Asp
XR_244632.2:n.392G>T
NR_156488.1:n.384G>T
XM_011532028.2:c.297G>T	XP_011530330.1:p.Glu99Asp
NM_000297.4:c.297G>T MANE Select	NP_000288.1:p.Glu99Asp
NR_156488.2:n.396G>T