Canonical Allele Identifier: CA3004166

Gene: PKD2

Linked Data

• ClinVar Variation Id: 811474
• ClinVar RCV Id: RCV001001348 ; RCV002550749
• dbSNP Id: rs763311767
• ExAC: 4:88986638 A / G
• gnomAD v2: 4-88986638-A-G
• gnomAD v4: 4-88065486-A-G
• MyVariant Identifiers: chr4:g.88986638A>G (hg19) ; chr4:g.88065486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065486A>G , CM000666.2:g.88065486A>G	GRCh38
NC_000004.11:g.88986638A>G , CM000666.1:g.88986638A>G	GRCh37
NC_000004.10:g.89205662A>G	NCBI36
NG_008604.1:g.62819A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2231A>G MANE Select	ENSP00000237596.2:p.Asp744Gly
ENST00000237596.6:c.2231A>G	ENSP00000237596.2:p.Asp744Gly
ENST00000502363.1:c.485A>G	ENSP00000425289.1:p.Asp162Gly
ENST00000508588.5:c.485A>G	ENSP00000427131.1:p.Asp162Gly
ENST00000511337.5:n.483A>G
ENST00000512858.1:n.443A>G
NM_000297.3:c.2231A>G	NP_000288.1:p.Asp744Gly
XM_011532028.1:c.2006A>G	XP_011530330.1:p.Asp669Gly
XM_011532029.1:c.1511A>G	XP_011530331.1:p.Asp504Gly
XM_011532030.1:c.1391A>G	XP_011530332.1:p.Asp464Gly
NR_156488.1:n.2197A>G
XM_011532028.2:c.2006A>G	XP_011530330.1:p.Asp669Gly
XM_011532030.2:c.1391A>G	XP_011530332.1:p.Asp464Gly
NM_000297.4:c.2231A>G MANE Select	NP_000288.1:p.Asp744Gly
NR_156488.2:n.2209A>G