Canonical Allele Identifier: CA552866254
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1441916966
gnomAD v2: 4-88928837-G-T
gnomAD v4: 4-88007685-G-T
MyVariant Identifiers: chr4:g.88928837G>T (hg19) chr4:g.88007685G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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