Canonical Allele Identifier: CA357627222
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008313-G-A
MyVariant Identifiers: chr4:g.88929465G>A (hg19) chr4:g.88008313G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.580G>A MANE Select ENSP00000237596.2:p.Val194Ile
ENST00000237596.6:c.580G>A ENSP00000237596.2:p.Val194Ile
ENST00000506727.1:n.82G>A
NM_000297.3:c.580G>A NP_000288.1:p.Val194Ile
XM_011532028.1:c.580G>A XP_011530330.1:p.Val194Ile
XR_244632.2:n.675G>A
NR_156488.1:n.667G>A
XM_011532028.2:c.580G>A XP_011530330.1:p.Val194Ile
NM_000297.4:c.580G>A MANE Select NP_000288.1:p.Val194Ile
NR_156488.2:n.679G>A
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