Canonical Allele Identifier: CA11652844

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1234483
• ClinVar RCV Id: RCV001620719
• dbSNP Id: rs2725220
• gnomAD v2: 4-88959922-G-C
• gnomAD v3: 4-88038770-G-C
• gnomAD v4: 4-88038770-G-C
• MyVariant Identifiers: chr4:g.88959922G>C (hg19) ; chr4:g.88038770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038770G>C , CM000666.2:g.88038770G>C	GRCh38
NC_000004.11:g.88959922G>C , CM000666.1:g.88959922G>C	GRCh37
NC_000004.10:g.89178946G>C	NCBI36
NG_008604.1:g.36103G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1094+269G>C MANE Select	ENSP00000237596.2:n.1094+269G>C
ENST00000237596.6:c.1094+269G>C	ENSP00000237596.2:n.1094+269G>C
ENST00000506367.1:n.541+269G>C
NM_000297.3:c.1094+269G>C	NP_000288.1:n.1094+269G>C
XM_011532028.1:c.1094+269G>C	XP_011530330.1:n.1094+269G>C
XM_011532029.1:c.374+269G>C	XP_011530331.1:n.374+269G>C
XM_011532030.1:c.254+269G>C	XP_011530332.1:n.254+269G>C
XR_244632.2:n.1189+269G>C
NR_156488.1:n.1181+269G>C
XM_011532028.2:c.1094+269G>C	XP_011530330.1:n.1094+269G>C
XM_011532030.2:c.254+269G>C	XP_011530332.1:n.254+269G>C
NM_000297.4:c.1094+269G>C MANE Select	NP_000288.1:n.1094+269G>C
NR_156488.2:n.1193+269G>C