Canonical Allele Identifier: CA440296776
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008048-G-C
MyVariant Identifiers: chr4:g.88929200G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008048G>C , CM000666.2:g.88008048G>C GRCh38
NC_000004.11:g.88929200G>C , CM000666.1:g.88929200G>C GRCh37
NC_000004.10:g.89148224G>C NCBI36
NG_008604.1:g.5381G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.315G>C MANE Select ENSP00000237596.2:p.Gly105=
ENST00000237596.6:c.315G>C ENSP00000237596.2:p.Gly105=
NM_000297.3:c.315G>C NP_000288.1:p.Gly105=
XM_011532028.1:c.315G>C XP_011530330.1:p.Gly105=
XR_244632.2:n.410G>C
NR_156488.1:n.402G>C
XM_011532028.2:c.315G>C XP_011530330.1:p.Gly105=
NM_000297.4:c.315G>C MANE Select NP_000288.1:p.Gly105=
NR_156488.2:n.414G>C