Canonical Allele Identifier: CA357627494
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88074811G>A , CM000666.2:g.88074811G>A GRCh38
NC_000004.11:g.88995963G>A , CM000666.1:g.88995963G>A GRCh37
NC_000004.10:g.89214987G>A NCBI36
NG_008604.1:g.72144G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2523-1G>A MANE Select ENSP00000237596.2:n.2523-1G>A
ENST00000237596.6:c.2523-1G>A ENSP00000237596.2:n.2523-1G>A
ENST00000502363.1:c.777-1G>A ENSP00000425289.1:n.777-1G>A
ENST00000508588.5:c.777-1G>A ENSP00000427131.1:n.777-1G>A
ENST00000511337.5:n.775-1G>A
ENST00000512858.1:n.1001-1G>A
NM_000297.3:c.2523-1G>A NP_000288.1:n.2523-1G>A
XM_011532028.1:c.2298-1G>A XP_011530330.1:n.2298-1G>A
XM_011532029.1:c.1803-1G>A XP_011530331.1:n.1803-1G>A
XM_011532030.1:c.1683-1G>A XP_011530332.1:n.1683-1G>A
NR_156488.1:n.2489-1G>A
XM_011532028.2:c.2298-1G>A XP_011530330.1:n.2298-1G>A
XM_011532030.2:c.1683-1G>A XP_011530332.1:n.1683-1G>A
NM_000297.4:c.2523-1G>A MANE Select NP_000288.1:n.2523-1G>A
NR_156488.2:n.2501-1G>A