Canonical Allele Identifier: CA357615510

Gene: PKD2

Linked Data

• gnomAD v4: 4-88043288-G-A
• MyVariant Identifiers: chr4:g.88964440G>A (hg19) ; chr4:g.88043288G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043288G>A , CM000666.2:g.88043288G>A	GRCh38
NC_000004.11:g.88964440G>A , CM000666.1:g.88964440G>A	GRCh37
NC_000004.10:g.89183464G>A	NCBI36
NG_008604.1:g.40621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1150G>A MANE Select	ENSP00000237596.2:p.Ala384Thr
ENST00000237596.6:c.1150G>A	ENSP00000237596.2:p.Ala384Thr
ENST00000506367.1:n.597G>A
ENST00000508588.5:c.-368G>A	ENSP00000427131.1:n.-368G>A
NM_000297.3:c.1150G>A	NP_000288.1:p.Ala384Thr
XM_011532028.1:c.1095-3354G>A	XP_011530330.1:n.1095-3354G>A
XM_011532029.1:c.430G>A	XP_011530331.1:p.Ala144Thr
XM_011532030.1:c.310G>A	XP_011530332.1:p.Ala104Thr
XR_244632.2:n.1245G>A
NR_156488.1:n.1237G>A
XM_011532028.2:c.1095-3354G>A	XP_011530330.1:n.1095-3354G>A
XM_011532030.2:c.310G>A	XP_011530332.1:p.Ala104Thr
NM_000297.4:c.1150G>A MANE Select	NP_000288.1:p.Ala384Thr
NR_156488.2:n.1249G>A