Canonical Allele Identifier: CA1474588020
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1720760360

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88065557A>G , CM000666.2:g.88065557A>G GRCh38
NC_000004.11:g.88986709A>G , CM000666.1:g.88986709A>G GRCh37
NC_000004.10:g.89205733A>G NCBI36
NG_008604.1:g.62890A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2240+62A>G MANE Select ENSP00000237596.2:n.2240+62A>G
ENST00000237596.6:c.2240+62A>G ENSP00000237596.2:n.2240+62A>G
ENST00000502363.1:c.494+62A>G ENSP00000425289.1:n.494+62A>G
ENST00000508588.5:c.494+62A>G ENSP00000427131.1:n.494+62A>G
ENST00000511337.5:n.492+62A>G
ENST00000512858.1:n.514A>G
NM_000297.3:c.2240+62A>G NP_000288.1:n.2240+62A>G
XM_011532028.1:c.2015+62A>G XP_011530330.1:n.2015+62A>G
XM_011532029.1:c.1520+62A>G XP_011530331.1:n.1520+62A>G
XM_011532030.1:c.1400+62A>G XP_011530332.1:n.1400+62A>G
NR_156488.1:n.2206+62A>G
XM_011532028.2:c.2015+62A>G XP_011530330.1:n.2015+62A>G
XM_011532030.2:c.1400+62A>G XP_011530332.1:n.1400+62A>G
NM_000297.4:c.2240+62A>G MANE Select NP_000288.1:n.2240+62A>G
NR_156488.2:n.2218+62A>G