Canonical Allele Identifier: CA357626274
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929226T>A (hg19) chr4:g.88008074T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008074T>A , CM000666.2:g.88008074T>A GRCh38
NC_000004.11:g.88929226T>A , CM000666.1:g.88929226T>A GRCh37
NC_000004.10:g.89148250T>A NCBI36
NG_008604.1:g.5407T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.341T>A MANE Select ENSP00000237596.2:p.Met114Lys
ENST00000237596.6:c.341T>A ENSP00000237596.2:p.Met114Lys
NM_000297.3:c.341T>A NP_000288.1:p.Met114Lys
XM_011532028.1:c.341T>A XP_011530330.1:p.Met114Lys
XR_244632.2:n.436T>A
NR_156488.1:n.428T>A
XM_011532028.2:c.341T>A XP_011530330.1:p.Met114Lys
NM_000297.4:c.341T>A MANE Select NP_000288.1:p.Met114Lys
NR_156488.2:n.440T>A
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