Canonical Allele Identifier: CA357632890

Gene: PKD2

Linked Data

• dbSNP Id: rs1388722678
• gnomAD v2: 4-88959545-G-T
• gnomAD v4: 4-88038393-G-T
• MyVariant Identifiers: chr4:g.88959545G>T (hg19) ; chr4:g.88038393G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038393G>T , CM000666.2:g.88038393G>T	GRCh38
NC_000004.11:g.88959545G>T , CM000666.1:g.88959545G>T	GRCh37
NC_000004.10:g.89178569G>T	NCBI36
NG_008604.1:g.35726G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.986G>T MANE Select	ENSP00000237596.2:p.Gly329Val
ENST00000237596.6:c.986G>T	ENSP00000237596.2:p.Gly329Val
ENST00000506367.1:n.433G>T
NM_000297.3:c.986G>T	NP_000288.1:p.Gly329Val
XM_011532028.1:c.986G>T	XP_011530330.1:p.Gly329Val
XM_011532029.1:c.266G>T	XP_011530331.1:p.Gly89Val
XM_011532030.1:c.146G>T	XP_011530332.1:p.Gly49Val
XR_244632.2:n.1081G>T
NR_156488.1:n.1073G>T
XM_011532028.2:c.986G>T	XP_011530330.1:p.Gly329Val
XM_011532030.2:c.146G>T	XP_011530332.1:p.Gly49Val
NM_000297.4:c.986G>T MANE Select	NP_000288.1:p.Gly329Val
NR_156488.2:n.1085G>T