Canonical Allele Identifier: CA357632412

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959438G>C (hg19) ; chr4:g.88038286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038286G>C , CM000666.2:g.88038286G>C	GRCh38
NC_000004.11:g.88959438G>C , CM000666.1:g.88959438G>C	GRCh37
NC_000004.10:g.89178462G>C	NCBI36
NG_008604.1:g.35619G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.879G>C MANE Select	ENSP00000237596.2:p.Trp293Cys
ENST00000237596.6:c.879G>C	ENSP00000237596.2:p.Trp293Cys
ENST00000506367.1:n.326G>C
ENST00000506727.1:n.465G>C
NM_000297.3:c.879G>C	NP_000288.1:p.Trp293Cys
XM_011532028.1:c.879G>C	XP_011530330.1:p.Trp293Cys
XM_011532029.1:c.159G>C	XP_011530331.1:p.Trp53Cys
XM_011532030.1:c.39G>C	XP_011530332.1:p.Trp13Cys
XR_244632.2:n.974G>C
NR_156488.1:n.966G>C
XM_011532028.2:c.879G>C	XP_011530330.1:p.Trp293Cys
XM_011532030.2:c.39G>C	XP_011530332.1:p.Trp13Cys
NM_000297.4:c.879G>C MANE Select	NP_000288.1:p.Trp293Cys
NR_156488.2:n.978G>C