Canonical Allele Identifier: CA100873229

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2086126
• ClinVar RCV Id: RCV002996546 ; RCV002996545 ; RCV003328707 ; RCV003130806
• dbSNP Id: rs1032445911
• gnomAD v2: 4-88929271-C-G
• gnomAD v3: 4-88008119-C-G
• gnomAD v4: 4-88008119-C-G
• MyVariant Identifiers: chr4:g.88929271C>G (hg19) ; chr4:g.88008119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008119C>G , CM000666.2:g.88008119C>G	GRCh38
NC_000004.11:g.88929271C>G , CM000666.1:g.88929271C>G	GRCh37
NC_000004.10:g.89148295C>G	NCBI36
NG_008604.1:g.5452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.386C>G MANE Select	ENSP00000237596.2:p.Ser129Trp
ENST00000237596.6:c.386C>G	ENSP00000237596.2:p.Ser129Trp
NM_000297.3:c.386C>G	NP_000288.1:p.Ser129Trp
XM_011532028.1:c.386C>G	XP_011530330.1:p.Ser129Trp
XR_244632.2:n.481C>G
NR_156488.1:n.473C>G
XM_011532028.2:c.386C>G	XP_011530330.1:p.Ser129Trp
NM_000297.4:c.386C>G MANE Select	NP_000288.1:p.Ser129Trp
NR_156488.2:n.485C>G