Canonical Allele Identifier: CA357619723

Gene: PKD2

Linked Data

• dbSNP Id: rs1727792344
• gnomAD v3: 4-88046832-A-G
• gnomAD v4: 4-88046832-A-G
• MyVariant Identifiers: chr4:g.88967984A>G (hg19) ; chr4:g.88046832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046832A>G , CM000666.2:g.88046832A>G	GRCh38
NC_000004.11:g.88967984A>G , CM000666.1:g.88967984A>G	GRCh37
NC_000004.10:g.89187008A>G	NCBI36
NG_008604.1:g.44165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1510A>G MANE Select	ENSP00000237596.2:p.Arg504Gly
ENST00000237596.6:c.1510A>G	ENSP00000237596.2:p.Arg504Gly
ENST00000508588.5:c.-199+3375A>G	ENSP00000427131.1:n.-199+3375A>G
NM_000297.3:c.1510A>G	NP_000288.1:p.Arg504Gly
XM_011532028.1:c.1285A>G	XP_011530330.1:p.Arg429Gly
XM_011532029.1:c.790A>G	XP_011530331.1:p.Arg264Gly
XM_011532030.1:c.670A>G	XP_011530332.1:p.Arg224Gly
XR_244632.2:n.1605A>G
NR_156488.1:n.1597A>G
XM_011532028.2:c.1285A>G	XP_011530330.1:p.Arg429Gly
XM_011532030.2:c.670A>G	XP_011530332.1:p.Arg224Gly
NM_000297.4:c.1510A>G MANE Select	NP_000288.1:p.Arg504Gly
NR_156488.2:n.1609A>G