Canonical Allele Identifier: CA357626582

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2014915
• ClinVar RCV Id: RCV002839194
• MyVariant Identifiers: chr4:g.88929307T>C (hg19) ; chr4:g.88008155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008155T>C , CM000666.2:g.88008155T>C	GRCh38
NC_000004.11:g.88929307T>C , CM000666.1:g.88929307T>C	GRCh37
NC_000004.10:g.89148331T>C	NCBI36
NG_008604.1:g.5488T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.422T>C MANE Select	ENSP00000237596.2:p.Leu141Pro
ENST00000237596.6:c.422T>C	ENSP00000237596.2:p.Leu141Pro
NM_000297.3:c.422T>C	NP_000288.1:p.Leu141Pro
XM_011532028.1:c.422T>C	XP_011530330.1:p.Leu141Pro
XR_244632.2:n.517T>C
NR_156488.1:n.509T>C
XM_011532028.2:c.422T>C	XP_011530330.1:p.Leu141Pro
NM_000297.4:c.422T>C MANE Select	NP_000288.1:p.Leu141Pro
NR_156488.2:n.521T>C