Canonical Allele Identifier: CA123160
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13518
dbSNP Id: rs121918040
gnomAD v2: 4-88986631-C-T
gnomAD v3: 4-88065479-C-T
gnomAD v4: 4-88065479-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88065479C>T , CM000666.2:g.88065479C>T GRCh38
NC_000004.11:g.88986631C>T , CM000666.1:g.88986631C>T GRCh37
NC_000004.10:g.89205655C>T NCBI36
NG_008604.1:g.62812C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2224C>T MANE Select ENSP00000237596.2:p.Arg742Ter
ENST00000237596.6:c.2224C>T ENSP00000237596.2:p.Arg742Ter
ENST00000502363.1:c.478C>T ENSP00000425289.1:p.Arg160Ter
ENST00000508588.5:c.478C>T ENSP00000427131.1:p.Arg160Ter
ENST00000511337.5:n.476C>T
ENST00000512858.1:n.436C>T
NM_000297.3:c.2224C>T NP_000288.1:p.Arg742Ter
XM_011532028.1:c.1999C>T XP_011530330.1:p.Arg667Ter
XM_011532029.1:c.1504C>T XP_011530331.1:p.Arg502Ter
XM_011532030.1:c.1384C>T XP_011530332.1:p.Arg462Ter
NR_156488.1:n.2190C>T
XM_011532028.2:c.1999C>T XP_011530330.1:p.Arg667Ter
XM_011532030.2:c.1384C>T XP_011530332.1:p.Arg462Ter
NM_000297.4:c.2224C>T MANE Select NP_000288.1:p.Arg742Ter
NR_156488.2:n.2202C>T