Canonical Allele Identifier: CA440297006
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88929365G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008213G>A , CM000666.2:g.88008213G>A GRCh38
NC_000004.11:g.88929365G>A , CM000666.1:g.88929365G>A GRCh37
NC_000004.10:g.89148389G>A NCBI36
NG_008604.1:g.5546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.480G>A MANE Select ENSP00000237596.2:p.Gln160=
ENST00000237596.6:c.480G>A ENSP00000237596.2:p.Gln160=
NM_000297.3:c.480G>A NP_000288.1:p.Gln160=
XM_011532028.1:c.480G>A XP_011530330.1:p.Gln160=
XR_244632.2:n.575G>A
NR_156488.1:n.567G>A
XM_011532028.2:c.480G>A XP_011530330.1:p.Gln160=
NM_000297.4:c.480G>A MANE Select NP_000288.1:p.Gln160=
NR_156488.2:n.579G>A