Canonical Allele Identifier: CA357625752
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs2110080280
gnomAD v4: 4-88007950-G-A
MyVariant Identifiers: chr4:g.88929102G>A (hg19) chr4:g.88007950G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007950G>A , CM000666.2:g.88007950G>A GRCh38
NC_000004.11:g.88929102G>A , CM000666.1:g.88929102G>A GRCh37
NC_000004.10:g.89148126G>A NCBI36
NG_008604.1:g.5283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.217G>A MANE Select ENSP00000237596.2:p.Ala73Thr
ENST00000237596.6:c.217G>A ENSP00000237596.2:p.Ala73Thr
NM_000297.3:c.217G>A NP_000288.1:p.Ala73Thr
XM_011532028.1:c.217G>A XP_011530330.1:p.Ala73Thr
XR_244632.2:n.312G>A
NR_156488.1:n.304G>A
XM_011532028.2:c.217G>A XP_011530330.1:p.Ala73Thr
NM_000297.4:c.217G>A MANE Select NP_000288.1:p.Ala73Thr
NR_156488.2:n.316G>A
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