Canonical Allele Identifier: CA440296886
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929302G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008150G>T , CM000666.2:g.88008150G>T GRCh38
NC_000004.11:g.88929302G>T , CM000666.1:g.88929302G>T GRCh37
NC_000004.10:g.89148326G>T NCBI36
NG_008604.1:g.5483G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.417G>T MANE Select ENSP00000237596.2:p.Arg139=
ENST00000237596.6:c.417G>T ENSP00000237596.2:p.Arg139=
NM_000297.3:c.417G>T NP_000288.1:p.Arg139=
XM_011532028.1:c.417G>T XP_011530330.1:p.Arg139=
XR_244632.2:n.512G>T
NR_156488.1:n.504G>T
XM_011532028.2:c.417G>T XP_011530330.1:p.Arg139=
NM_000297.4:c.417G>T MANE Select NP_000288.1:p.Arg139=
NR_156488.2:n.516G>T