Canonical Allele Identifier: CA440297141
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929425G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008273G>C , CM000666.2:g.88008273G>C GRCh38
NC_000004.11:g.88929425G>C , CM000666.1:g.88929425G>C GRCh37
NC_000004.10:g.89148449G>C NCBI36
NG_008604.1:g.5606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.540G>C MANE Select ENSP00000237596.2:p.Leu180=
ENST00000237596.6:c.540G>C ENSP00000237596.2:p.Leu180=
ENST00000506727.1:n.42G>C
NM_000297.3:c.540G>C NP_000288.1:p.Leu180=
XM_011532028.1:c.540G>C XP_011530330.1:p.Leu180=
XR_244632.2:n.635G>C
NR_156488.1:n.627G>C
XM_011532028.2:c.540G>C XP_011530330.1:p.Leu180=
NM_000297.4:c.540G>C MANE Select NP_000288.1:p.Leu180=
NR_156488.2:n.639G>C