Canonical Allele Identifier: CA357624761

Gene: PKD2

Linked Data

• dbSNP Id: rs1720758287
• gnomAD v4: 4-88065492-A-G
• MyVariant Identifiers: chr4:g.88986644A>G (hg19) ; chr4:g.88065492A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065492A>G , CM000666.2:g.88065492A>G	GRCh38
NC_000004.11:g.88986644A>G , CM000666.1:g.88986644A>G	GRCh37
NC_000004.10:g.89205668A>G	NCBI36
NG_008604.1:g.62825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2237A>G MANE Select	ENSP00000237596.2:p.Lys746Arg
ENST00000237596.6:c.2237A>G	ENSP00000237596.2:p.Lys746Arg
ENST00000502363.1:c.491A>G	ENSP00000425289.1:p.Lys164Arg
ENST00000508588.5:c.491A>G	ENSP00000427131.1:p.Lys164Arg
ENST00000511337.5:n.489A>G
ENST00000512858.1:n.449A>G
NM_000297.3:c.2237A>G	NP_000288.1:p.Lys746Arg
XM_011532028.1:c.2012A>G	XP_011530330.1:p.Lys671Arg
XM_011532029.1:c.1517A>G	XP_011530331.1:p.Lys506Arg
XM_011532030.1:c.1397A>G	XP_011530332.1:p.Lys466Arg
NR_156488.1:n.2203A>G
XM_011532028.2:c.2012A>G	XP_011530330.1:p.Lys671Arg
XM_011532030.2:c.1397A>G	XP_011530332.1:p.Lys466Arg
NM_000297.4:c.2237A>G MANE Select	NP_000288.1:p.Lys746Arg
NR_156488.2:n.2215A>G