Canonical Allele Identifier: CA357619465

Gene: PKD2

Linked Data

• ClinVar Variation Id: 932029
• ClinVar RCV Id: RCV001199139
• dbSNP Id: rs1727790126
• MyVariant Identifiers: chr4:g.88967943A>T (hg19) ; chr4:g.88046791A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046791A>T , CM000666.2:g.88046791A>T	GRCh38
NC_000004.11:g.88967943A>T , CM000666.1:g.88967943A>T	GRCh37
NC_000004.10:g.89186967A>T	NCBI36
NG_008604.1:g.44124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1469A>T MANE Select	ENSP00000237596.2:p.Glu490Val
ENST00000237596.6:c.1469A>T	ENSP00000237596.2:p.Glu490Val
ENST00000508588.5:c.-199+3334A>T	ENSP00000427131.1:n.-199+3334A>T
NM_000297.3:c.1469A>T	NP_000288.1:p.Glu490Val
XM_011532028.1:c.1244A>T	XP_011530330.1:p.Glu415Val
XM_011532029.1:c.749A>T	XP_011530331.1:p.Glu250Val
XM_011532030.1:c.629A>T	XP_011530332.1:p.Glu210Val
XR_244632.2:n.1564A>T
NR_156488.1:n.1556A>T
XM_011532028.2:c.1244A>T	XP_011530330.1:p.Glu415Val
XM_011532030.2:c.629A>T	XP_011530332.1:p.Glu210Val
NM_000297.4:c.1469A>T MANE Select	NP_000288.1:p.Glu490Val
NR_156488.2:n.1568A>T