Canonical Allele Identifier: CA357627089

Gene: PKD2

Linked Data

• dbSNP Id: rs1578111699
• gnomAD v4: 4-88008280-C-T
• MyVariant Identifiers: chr4:g.88929432C>T (hg19) ; chr4:g.88008280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008280C>T , CM000666.2:g.88008280C>T	GRCh38
NC_000004.11:g.88929432C>T , CM000666.1:g.88929432C>T	GRCh37
NC_000004.10:g.89148456C>T	NCBI36
NG_008604.1:g.5613C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.547C>T MANE Select	ENSP00000237596.2:p.Gln183Ter
ENST00000237596.6:c.547C>T	ENSP00000237596.2:p.Gln183Ter
ENST00000506727.1:n.49C>T
NM_000297.3:c.547C>T	NP_000288.1:p.Gln183Ter
XM_011532028.1:c.547C>T	XP_011530330.1:p.Gln183Ter
XR_244632.2:n.642C>T
NR_156488.1:n.634C>T
XM_011532028.2:c.547C>T	XP_011530330.1:p.Gln183Ter
NM_000297.4:c.547C>T MANE Select	NP_000288.1:p.Gln183Ter
NR_156488.2:n.646C>T