Canonical Allele Identifier: CA3004246

Gene: PKD2

Linked Data

• ClinVar Variation Id: 289403
• ClinVar RCV Id: RCV000405309 ; RCV000755622 ; RCV001157152 ; RCV001084804 ; RCV001292453
• dbSNP Id: rs145343957
• ExAC: 4:88989102 G / A
• gnomAD v2: 4-88989102-G-A
• gnomAD v3: 4-88067950-G-A
• gnomAD v4: 4-88067950-G-A
• MyVariant Identifiers: chr4:g.88989102G>A (hg19) ; chr4:g.88067950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067950G>A , CM000666.2:g.88067950G>A	GRCh38
NC_000004.11:g.88989102G>A , CM000666.1:g.88989102G>A	GRCh37
NC_000004.10:g.89208126G>A	NCBI36
NG_008604.1:g.65283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2411G>A MANE Select	ENSP00000237596.2:p.Ser804Asn
ENST00000237596.6:c.2411G>A	ENSP00000237596.2:p.Ser804Asn
ENST00000502363.1:c.665G>A	ENSP00000425289.1:p.Ser222Asn
ENST00000508588.5:c.665G>A	ENSP00000427131.1:p.Ser222Asn
ENST00000511337.5:n.663G>A
ENST00000512858.1:n.889G>A
NM_000297.3:c.2411G>A	NP_000288.1:p.Ser804Asn
XM_011532028.1:c.2186G>A	XP_011530330.1:p.Ser729Asn
XM_011532029.1:c.1691G>A	XP_011530331.1:p.Ser564Asn
XM_011532030.1:c.1571G>A	XP_011530332.1:p.Ser524Asn
NR_156488.1:n.2377G>A
XM_011532028.2:c.2186G>A	XP_011530330.1:p.Ser729Asn
XM_011532030.2:c.1571G>A	XP_011530332.1:p.Ser524Asn
NM_000297.4:c.2411G>A MANE Select	NP_000288.1:p.Ser804Asn
NR_156488.2:n.2389G>A