Canonical Allele Identifier: CA799592437
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1276848600
gnomAD v3: 4-88007684-A-C
gnomAD v4: 4-88007684-A-C
MyVariant Identifiers: chr4:g.88928836A>C (hg19) chr4:g.88007684A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007684A>C , CM000666.2:g.88007684A>C GRCh38
NC_000004.11:g.88928836A>C , CM000666.1:g.88928836A>C GRCh37
NC_000004.10:g.89147860A>C NCBI36
NG_008604.1:g.5017A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-50A>C MANE Select ENSP00000237596.2:n.-50A>C
ENST00000237596.6:c.-50A>C ENSP00000237596.2:n.-50A>C
NM_000297.3:c.-50A>C NP_000288.1:n.-50A>C
XM_011532028.1:c.-50A>C XP_011530330.1:n.-50A>C
XR_244632.2:n.46A>C
NR_156488.1:n.38A>C
XM_011532028.2:c.-50A>C XP_011530330.1:n.-50A>C
NM_000297.4:c.-50A>C MANE Select NP_000288.1:n.-50A>C
NR_156488.2:n.50A>C
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