Canonical Allele Identifier: CA3003966

Gene: PKD2

Linked Data

• ClinVar Variation Id: 562283
• ClinVar RCV Id: RCV000681723 ; RCV001868310 ; RCV002499203
• dbSNP Id: rs752024467
• ExAC: 4:88968023 G / A
• gnomAD v2: 4-88968023-G-A
• gnomAD v4: 4-88046871-G-A
• MyVariant Identifiers: chr4:g.88968023G>A (hg19) ; chr4:g.88046871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046871G>A , CM000666.2:g.88046871G>A	GRCh38
NC_000004.11:g.88968023G>A , CM000666.1:g.88968023G>A	GRCh37
NC_000004.10:g.89187047G>A	NCBI36
NG_008604.1:g.44204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+1G>A MANE Select	ENSP00000237596.2:n.1548+1G>A
ENST00000237596.6:c.1548+1G>A	ENSP00000237596.2:n.1548+1G>A
ENST00000508588.5:c.-199+3414G>A	ENSP00000427131.1:n.-199+3414G>A
NM_000297.3:c.1548+1G>A	NP_000288.1:n.1548+1G>A
XM_011532028.1:c.1323+1G>A	XP_011530330.1:n.1323+1G>A
XM_011532029.1:c.828+1G>A	XP_011530331.1:n.828+1G>A
XM_011532030.1:c.708+1G>A	XP_011530332.1:n.708+1G>A
XR_244632.2:n.1643+1G>A
NR_156488.1:n.1635+1G>A
XM_011532028.2:c.1323+1G>A	XP_011530330.1:n.1323+1G>A
XM_011532030.2:c.708+1G>A	XP_011530332.1:n.708+1G>A
NM_000297.4:c.1548+1G>A MANE Select	NP_000288.1:n.1548+1G>A
NR_156488.2:n.1647+1G>A