Canonical Allele Identifier: CA357627221
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1363807032
gnomAD v2: 4-88929465-G-C
gnomAD v3: 4-88008313-G-C
gnomAD v4: 4-88008313-G-C
MyVariant Identifiers: chr4:g.88929465G>C (hg19) chr4:g.88008313G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008313G>C , CM000666.2:g.88008313G>C GRCh38
NC_000004.11:g.88929465G>C , CM000666.1:g.88929465G>C GRCh37
NC_000004.10:g.89148489G>C NCBI36
NG_008604.1:g.5646G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.580G>C MANE Select ENSP00000237596.2:p.Val194Leu
ENST00000237596.6:c.580G>C ENSP00000237596.2:p.Val194Leu
ENST00000506727.1:n.82G>C
NM_000297.3:c.580G>C NP_000288.1:p.Val194Leu
XM_011532028.1:c.580G>C XP_011530330.1:p.Val194Leu
XR_244632.2:n.675G>C
NR_156488.1:n.667G>C
XM_011532028.2:c.580G>C XP_011530330.1:p.Val194Leu
NM_000297.4:c.580G>C MANE Select NP_000288.1:p.Val194Leu
NR_156488.2:n.679G>C
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