Canonical Allele Identifier: CA1474562077
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1441916966
gnomAD v4: 4-88007685-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007685G>C , CM000666.2:g.88007685G>C GRCh38
NC_000004.11:g.88928837G>C , CM000666.1:g.88928837G>C GRCh37
NC_000004.10:g.89147861G>C NCBI36
NG_008604.1:g.5018G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-49G>C MANE Select ENSP00000237596.2:n.-49G>C
ENST00000237596.6:c.-49G>C ENSP00000237596.2:n.-49G>C
NM_000297.3:c.-49G>C NP_000288.1:n.-49G>C
XM_011532028.1:c.-49G>C XP_011530330.1:n.-49G>C
XR_244632.2:n.47G>C
NR_156488.1:n.39G>C
XM_011532028.2:c.-49G>C XP_011530330.1:n.-49G>C
NM_000297.4:c.-49G>C MANE Select NP_000288.1:n.-49G>C
NR_156488.2:n.51G>C
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