Canonical Allele Identifier: CA440262105
Gene: PKD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.88964508T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88043356T>G , CM000666.2:g.88043356T>G GRCh38
NC_000004.11:g.88964508T>G , CM000666.1:g.88964508T>G GRCh37
NC_000004.10:g.89183532T>G NCBI36
NG_008604.1:g.40689T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.1218T>G MANE Select ENSP00000237596.2:p.Val406=
ENST00000237596.6:c.1218T>G ENSP00000237596.2:p.Val406=
ENST00000506367.1:n.665T>G
ENST00000508588.5:c.-300T>G ENSP00000427131.1:n.-300T>G
NM_000297.3:c.1218T>G NP_000288.1:p.Val406=
XM_011532028.1:c.1095-3286T>G XP_011530330.1:n.1095-3286T>G
XM_011532029.1:c.498T>G XP_011530331.1:p.Val166=
XM_011532030.1:c.378T>G XP_011530332.1:p.Val126=
XR_244632.2:n.1313T>G
NR_156488.1:n.1305T>G
XM_011532028.2:c.1095-3286T>G XP_011530330.1:n.1095-3286T>G
XM_011532030.2:c.378T>G XP_011530332.1:p.Val126=
NM_000297.4:c.1218T>G MANE Select NP_000288.1:p.Val406=
NR_156488.2:n.1317T>G