Canonical Allele Identifier: CA799592448
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1473542808
gnomAD v3: 4-88007689-C-G
gnomAD v4: 4-88007689-C-G
MyVariant Identifiers: chr4:g.88928841C>G (hg19) chr4:g.88007689C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007689C>G , CM000666.2:g.88007689C>G GRCh38
NC_000004.11:g.88928841C>G , CM000666.1:g.88928841C>G GRCh37
NC_000004.10:g.89147865C>G NCBI36
NG_008604.1:g.5022C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-45C>G MANE Select ENSP00000237596.2:n.-45C>G
ENST00000237596.6:c.-45C>G ENSP00000237596.2:n.-45C>G
NM_000297.3:c.-45C>G NP_000288.1:n.-45C>G
XM_011532028.1:c.-45C>G XP_011530330.1:n.-45C>G
XR_244632.2:n.51C>G
NR_156488.1:n.43C>G
XM_011532028.2:c.-45C>G XP_011530330.1:n.-45C>G
NM_000297.4:c.-45C>G MANE Select NP_000288.1:n.-45C>G
NR_156488.2:n.55C>G
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