Canonical Allele Identifier: CA3004246
Gene: PKD2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.88067950G>A
GRCh37 chr4:g.88989102G>A
Revel Score:
ENST00000237596 (MANE Select) 0.239
ENST00000508588 0.239
ENST00000502363 0.239
gnomAD v2:
4:88989102 G / A
gnomAD v3:
4:88067950 G / A
gnomAD v4:
chr4-88067950-G-A
Joint Max Group AF 0.00679758 (AFR)
Genomes Max Group AF 0.00744266 (AFR)
Exomes Max Group AF 0.00554957 (AFR)
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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
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