Canonical Allele Identifier: CA357624768

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986646G>A (hg19) ; chr4:g.88065494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065494G>A , CM000666.2:g.88065494G>A	GRCh38
NC_000004.11:g.88986646G>A , CM000666.1:g.88986646G>A	GRCh37
NC_000004.10:g.89205670G>A	NCBI36
NG_008604.1:g.62827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2239G>A MANE Select	ENSP00000237596.2:p.Gly747Arg
ENST00000237596.6:c.2239G>A	ENSP00000237596.2:p.Gly747Arg
ENST00000502363.1:c.493G>A	ENSP00000425289.1:p.Gly165Arg
ENST00000508588.5:c.493G>A	ENSP00000427131.1:p.Gly165Arg
ENST00000511337.5:n.491G>A
ENST00000512858.1:n.451G>A
NM_000297.3:c.2239G>A	NP_000288.1:p.Gly747Arg
XM_011532028.1:c.2014G>A	XP_011530330.1:p.Gly672Arg
XM_011532029.1:c.1519G>A	XP_011530331.1:p.Gly507Arg
XM_011532030.1:c.1399G>A	XP_011530332.1:p.Gly467Arg
NR_156488.1:n.2205G>A
XM_011532028.2:c.2014G>A	XP_011530330.1:p.Gly672Arg
XM_011532030.2:c.1399G>A	XP_011530332.1:p.Gly467Arg
NM_000297.4:c.2239G>A MANE Select	NP_000288.1:p.Gly747Arg
NR_156488.2:n.2217G>A