Canonical Allele Identifier: CA440296745
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1302363407
gnomAD v2: 4-88929212-A-C
gnomAD v4: 4-88008060-A-C
MyVariant Identifiers: chr4:g.88929212A>C (hg19) chr4:g.88008060A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008060A>C , CM000666.2:g.88008060A>C GRCh38
NC_000004.11:g.88929212A>C , CM000666.1:g.88929212A>C GRCh37
NC_000004.10:g.89148236A>C NCBI36
NG_008604.1:g.5393A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.327A>C MANE Select ENSP00000237596.2:p.Gly109=
ENST00000237596.6:c.327A>C ENSP00000237596.2:p.Gly109=
NM_000297.3:c.327A>C NP_000288.1:p.Gly109=
XM_011532028.1:c.327A>C XP_011530330.1:p.Gly109=
XR_244632.2:n.422A>C
NR_156488.1:n.414A>C
XM_011532028.2:c.327A>C XP_011530330.1:p.Gly109=
NM_000297.4:c.327A>C MANE Select NP_000288.1:p.Gly109=
NR_156488.2:n.426A>C
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