Canonical Allele Identifier: CA440296594
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1578111243
gnomAD v4: 4-88007904-G-A
MyVariant Identifiers: chr4:g.88929056G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007904G>A , CM000666.2:g.88007904G>A GRCh38
NC_000004.11:g.88929056G>A , CM000666.1:g.88929056G>A GRCh37
NC_000004.10:g.89148080G>A NCBI36
NG_008604.1:g.5237G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.171G>A MANE Select ENSP00000237596.2:p.Gln57=
ENST00000237596.6:c.171G>A ENSP00000237596.2:p.Gln57=
NM_000297.3:c.171G>A NP_000288.1:p.Gln57=
XM_011532028.1:c.171G>A XP_011530330.1:p.Gln57=
XR_244632.2:n.266G>A
NR_156488.1:n.258G>A
XM_011532028.2:c.171G>A XP_011530330.1:p.Gln57=
NM_000297.4:c.171G>A MANE Select NP_000288.1:p.Gln57=
NR_156488.2:n.270G>A
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