Canonical Allele Identifier: CA3003853

Gene: PKD2

Linked Data

• dbSNP Id: rs777045980
• ExAC: 4:88959537 C / G
• gnomAD v2: 4-88959537-C-G
• gnomAD v4: 4-88038385-C-G
• MyVariant Identifiers: chr4:g.88959537C>G (hg19) ; chr4:g.88038385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038385C>G , CM000666.2:g.88038385C>G	GRCh38
NC_000004.11:g.88959537C>G , CM000666.1:g.88959537C>G	GRCh37
NC_000004.10:g.89178561C>G	NCBI36
NG_008604.1:g.35718C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.978C>G MANE Select	ENSP00000237596.2:p.Val326=
ENST00000237596.6:c.978C>G	ENSP00000237596.2:p.Val326=
ENST00000506367.1:n.425C>G
NM_000297.3:c.978C>G	NP_000288.1:p.Val326=
XM_011532028.1:c.978C>G	XP_011530330.1:p.Val326=
XM_011532029.1:c.258C>G	XP_011530331.1:p.Val86=
XM_011532030.1:c.138C>G	XP_011530332.1:p.Val46=
XR_244632.2:n.1073C>G
NR_156488.1:n.1065C>G
XM_011532028.2:c.978C>G	XP_011530330.1:p.Val326=
XM_011532030.2:c.138C>G	XP_011530332.1:p.Val46=
NM_000297.4:c.978C>G MANE Select	NP_000288.1:p.Val326=
NR_156488.2:n.1077C>G