Canonical Allele Identifier: CA357632856

Gene: PKD2

Linked Data

• gnomAD v4: 4-88038387-G-A
• MyVariant Identifiers: chr4:g.88959539G>A (hg19) ; chr4:g.88038387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038387G>A , CM000666.2:g.88038387G>A	GRCh38
NC_000004.11:g.88959539G>A , CM000666.1:g.88959539G>A	GRCh37
NC_000004.10:g.89178563G>A	NCBI36
NG_008604.1:g.35720G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.980G>A MANE Select	ENSP00000237596.2:p.Arg327Lys
ENST00000237596.6:c.980G>A	ENSP00000237596.2:p.Arg327Lys
ENST00000506367.1:n.427G>A
NM_000297.3:c.980G>A	NP_000288.1:p.Arg327Lys
XM_011532028.1:c.980G>A	XP_011530330.1:p.Arg327Lys
XM_011532029.1:c.260G>A	XP_011530331.1:p.Arg87Lys
XM_011532030.1:c.140G>A	XP_011530332.1:p.Arg47Lys
XR_244632.2:n.1075G>A
NR_156488.1:n.1067G>A
XM_011532028.2:c.980G>A	XP_011530330.1:p.Arg327Lys
XM_011532030.2:c.140G>A	XP_011530332.1:p.Arg47Lys
NM_000297.4:c.980G>A MANE Select	NP_000288.1:p.Arg327Lys
NR_156488.2:n.1079G>A