Canonical Allele Identifier: CA440296671
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726233771
MyVariant Identifiers: chr4:g.88929101G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007949G>C , CM000666.2:g.88007949G>C GRCh38
NC_000004.11:g.88929101G>C , CM000666.1:g.88929101G>C GRCh37
NC_000004.10:g.89148125G>C NCBI36
NG_008604.1:g.5282G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.216G>C MANE Select ENSP00000237596.2:p.Ala72=
ENST00000237596.6:c.216G>C ENSP00000237596.2:p.Ala72=
NM_000297.3:c.216G>C NP_000288.1:p.Ala72=
XM_011532028.1:c.216G>C XP_011530330.1:p.Ala72=
XR_244632.2:n.311G>C
NR_156488.1:n.303G>C
XM_011532028.2:c.216G>C XP_011530330.1:p.Ala72=
NM_000297.4:c.216G>C MANE Select NP_000288.1:p.Ala72=
NR_156488.2:n.315G>C
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