Canonical Allele Identifier: CA357626638
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929321G>C (hg19) chr4:g.88008169G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008169G>C , CM000666.2:g.88008169G>C GRCh38
NC_000004.11:g.88929321G>C , CM000666.1:g.88929321G>C GRCh37
NC_000004.10:g.89148345G>C NCBI36
NG_008604.1:g.5502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.436G>C MANE Select ENSP00000237596.2:p.Gly146Arg
ENST00000237596.6:c.436G>C ENSP00000237596.2:p.Gly146Arg
NM_000297.3:c.436G>C NP_000288.1:p.Gly146Arg
XM_011532028.1:c.436G>C XP_011530330.1:p.Gly146Arg
XR_244632.2:n.531G>C
NR_156488.1:n.523G>C
XM_011532028.2:c.436G>C XP_011530330.1:p.Gly146Arg
NM_000297.4:c.436G>C MANE Select NP_000288.1:p.Gly146Arg
NR_156488.2:n.535G>C
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