Canonical Allele Identifier: CA357626220
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726241047
gnomAD v3: 4-88008062-T-G
gnomAD v4: 4-88008062-T-G
MyVariant Identifiers: chr4:g.88929214T>G (hg19) chr4:g.88008062T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008062T>G , CM000666.2:g.88008062T>G GRCh38
NC_000004.11:g.88929214T>G , CM000666.1:g.88929214T>G GRCh37
NC_000004.10:g.89148238T>G NCBI36
NG_008604.1:g.5395T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.329T>G MANE Select ENSP00000237596.2:p.Met110Arg
ENST00000237596.6:c.329T>G ENSP00000237596.2:p.Met110Arg
NM_000297.3:c.329T>G NP_000288.1:p.Met110Arg
XM_011532028.1:c.329T>G XP_011530330.1:p.Met110Arg
XR_244632.2:n.424T>G
NR_156488.1:n.416T>G
XM_011532028.2:c.329T>G XP_011530330.1:p.Met110Arg
NM_000297.4:c.329T>G MANE Select NP_000288.1:p.Met110Arg
NR_156488.2:n.428T>G
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