Canonical Allele Identifier: CA357626471
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929279A>C (hg19) chr4:g.88008127A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008127A>C , CM000666.2:g.88008127A>C GRCh38
NC_000004.11:g.88929279A>C , CM000666.1:g.88929279A>C GRCh37
NC_000004.10:g.89148303A>C NCBI36
NG_008604.1:g.5460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.394A>C MANE Select ENSP00000237596.2:p.Ser132Arg
ENST00000237596.6:c.394A>C ENSP00000237596.2:p.Ser132Arg
NM_000297.3:c.394A>C NP_000288.1:p.Ser132Arg
XM_011532028.1:c.394A>C XP_011530330.1:p.Ser132Arg
XR_244632.2:n.489A>C
NR_156488.1:n.481A>C
XM_011532028.2:c.394A>C XP_011530330.1:p.Ser132Arg
NM_000297.4:c.394A>C MANE Select NP_000288.1:p.Ser132Arg
NR_156488.2:n.493A>C
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