Canonical Allele Identifier: CA3004303
Community Standard Title: NM_000297.4(PKD2):c.2614C>G (p.Arg872Gly)
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88074903C>G , CM000666.2:g.88074903C>G GRCh38
NC_000004.11:g.88996055C>G , CM000666.1:g.88996055C>G GRCh37
NC_000004.10:g.89215079C>G NCBI36
NG_008604.1:g.72236C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000297.4:c.2614C>G MANE Select NP_000288.1:p.Arg872Gly
ENST00000237596.7:c.2614C>G MANE Select ENSP00000237596.2:p.Arg872Gly
NM_000297.3:c.2614C>G NP_000288.1:p.Arg872Gly
NR_156488.1:n.2580C>G
NR_156488.2:n.2592C>G
ENST00000237596.6:c.2614C>G ENSP00000237596.2:p.Arg872Gly
ENST00000502363.1:c.868C>G ENSP00000425289.1:p.Arg290Gly
ENST00000508588.5:c.868C>G ENSP00000427131.1:p.Arg290Gly
ENST00000511337.5:n.866C>G
ENST00000512858.1:n.1092C>G
XM_011532028.1:c.2389C>G XP_011530330.1:p.Arg797Gly
XM_011532028.2:c.2389C>G XP_011530330.1:p.Arg797Gly
XM_011532029.1:c.1894C>G XP_011530331.1:p.Arg632Gly
XM_011532030.1:c.1774C>G XP_011530332.1:p.Arg592Gly
XM_011532030.2:c.1774C>G XP_011530332.1:p.Arg592Gly