Canonical Allele Identifier: CA3004136
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88065339T>C , CM000666.2:g.88065339T>C GRCh38
NC_000004.11:g.88986491T>C , CM000666.1:g.88986491T>C GRCh37
NC_000004.10:g.89205515T>C NCBI36
NG_008604.1:g.62672T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2119-35T>C MANE Select ENSP00000237596.2:n.2119-35T>C
ENST00000237596.6:c.2119-35T>C ENSP00000237596.2:n.2119-35T>C
ENST00000502363.1:c.373-35T>C ENSP00000425289.1:n.373-35T>C
ENST00000508588.5:c.373-35T>C ENSP00000427131.1:n.373-35T>C
ENST00000511337.5:n.371-35T>C
ENST00000512858.1:n.331-35T>C
NM_000297.3:c.2119-35T>C NP_000288.1:n.2119-35T>C
XM_011532028.1:c.1894-35T>C XP_011530330.1:n.1894-35T>C
XM_011532029.1:c.1399-35T>C XP_011530331.1:n.1399-35T>C
XM_011532030.1:c.1279-35T>C XP_011530332.1:n.1279-35T>C
XR_244632.2:n.2093-35T>C
NR_156488.1:n.2085-35T>C
XM_011532028.2:c.1894-35T>C XP_011530330.1:n.1894-35T>C
XM_011532030.2:c.1279-35T>C XP_011530332.1:n.1279-35T>C
NM_000297.4:c.2119-35T>C MANE Select NP_000288.1:n.2119-35T>C
NR_156488.2:n.2097-35T>C