Canonical Allele Identifier: CA3003967

Gene: PKD2

Linked Data

• ClinVar Variation Id: 255789
• ClinVar RCV Id: RCV000249412 ; RCV000322349 ; RCV001253822 ; RCV001292174
• dbSNP Id: rs376901684
• ExAC: 4:88968031 G / C
• gnomAD v2: 4-88968031-G-C
• gnomAD v3: 4-88046879-G-C
• gnomAD v4: 4-88046879-G-C
• MyVariant Identifiers: chr4:g.88968031G>C (hg19) ; chr4:g.88046879G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046879G>C , CM000666.2:g.88046879G>C	GRCh38
NC_000004.11:g.88968031G>C , CM000666.1:g.88968031G>C	GRCh37
NC_000004.10:g.89187055G>C	NCBI36
NG_008604.1:g.44212G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1548+9G>C MANE Select	ENSP00000237596.2:n.1548+9G>C
ENST00000237596.6:c.1548+9G>C	ENSP00000237596.2:n.1548+9G>C
ENST00000508588.5:c.-199+3422G>C	ENSP00000427131.1:n.-199+3422G>C
NM_000297.3:c.1548+9G>C	NP_000288.1:n.1548+9G>C
XM_011532028.1:c.1323+9G>C	XP_011530330.1:n.1323+9G>C
XM_011532029.1:c.828+9G>C	XP_011530331.1:n.828+9G>C
XM_011532030.1:c.708+9G>C	XP_011530332.1:n.708+9G>C
XR_244632.2:n.1643+9G>C
NR_156488.1:n.1635+9G>C
XM_011532028.2:c.1323+9G>C	XP_011530330.1:n.1323+9G>C
XM_011532030.2:c.708+9G>C	XP_011530332.1:n.708+9G>C
NM_000297.4:c.1548+9G>C MANE Select	NP_000288.1:n.1548+9G>C
NR_156488.2:n.1647+9G>C