Canonical Allele Identifier: CA357618505

Gene: PKD2

Linked Data

• ClinVar Variation Id: 873386
• ClinVar RCV Id: RCV001095615 ; RCV002512138
• dbSNP Id: rs1727783547
• MyVariant Identifiers: chr4:g.88967819G>C (hg19) ; chr4:g.88046667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046667G>C , CM000666.2:g.88046667G>C	GRCh38
NC_000004.11:g.88967819G>C , CM000666.1:g.88967819G>C	GRCh37
NC_000004.10:g.89186843G>C	NCBI36
NG_008604.1:g.44000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1345G>C MANE Select	ENSP00000237596.2:p.Gly449Arg
ENST00000237596.6:c.1345G>C	ENSP00000237596.2:p.Gly449Arg
ENST00000508588.5:c.-199+3210G>C	ENSP00000427131.1:n.-199+3210G>C
NM_000297.3:c.1345G>C	NP_000288.1:p.Gly449Arg
XM_011532028.1:c.1120G>C	XP_011530330.1:p.Gly374Arg
XM_011532029.1:c.625G>C	XP_011530331.1:p.Gly209Arg
XM_011532030.1:c.505G>C	XP_011530332.1:p.Gly169Arg
XR_244632.2:n.1440G>C
NR_156488.1:n.1432G>C
XM_011532028.2:c.1120G>C	XP_011530330.1:p.Gly374Arg
XM_011532030.2:c.505G>C	XP_011530332.1:p.Gly169Arg
NM_000297.4:c.1345G>C MANE Select	NP_000288.1:p.Gly449Arg
NR_156488.2:n.1444G>C