Canonical Allele Identifier: CA357618704

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2133075
• ClinVar RCV Id: RCV003056200
• MyVariant Identifiers: chr4:g.88967847A>C (hg19) ; chr4:g.88046695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046695A>C , CM000666.2:g.88046695A>C	GRCh38
NC_000004.11:g.88967847A>C , CM000666.1:g.88967847A>C	GRCh37
NC_000004.10:g.89186871A>C	NCBI36
NG_008604.1:g.44028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1373A>C MANE Select	ENSP00000237596.2:p.Gln458Pro
ENST00000237596.6:c.1373A>C	ENSP00000237596.2:p.Gln458Pro
ENST00000508588.5:c.-199+3238A>C	ENSP00000427131.1:n.-199+3238A>C
NM_000297.3:c.1373A>C	NP_000288.1:p.Gln458Pro
XM_011532028.1:c.1148A>C	XP_011530330.1:p.Gln383Pro
XM_011532029.1:c.653A>C	XP_011530331.1:p.Gln218Pro
XM_011532030.1:c.533A>C	XP_011530332.1:p.Gln178Pro
XR_244632.2:n.1468A>C
NR_156488.1:n.1460A>C
XM_011532028.2:c.1148A>C	XP_011530330.1:p.Gln383Pro
XM_011532030.2:c.533A>C	XP_011530332.1:p.Gln178Pro
NM_000297.4:c.1373A>C MANE Select	NP_000288.1:p.Gln458Pro
NR_156488.2:n.1472A>C