Canonical Allele Identifier: CA1474584693
Community Standard Title: NM_000297.4(PKD2):c.1906C= (p.Gln636=)
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88057990C= , CM000666.2:g.88057990C= GRCh38
NC_000004.11:g.88979142C= , CM000666.1:g.88979142C= GRCh37
NC_000004.10:g.89198166C= NCBI36
NG_008604.1:g.55323C=

Transcript Alleles

HGVS Amino-acid Change
NM_000297.4:c.1906C= MANE Select NP_000288.1:p.Gln636=
ENST00000237596.7:c.1906C= MANE Select ENSP00000237596.2:p.Gln636=
NM_000297.3:c.1906C= NP_000288.1:p.Gln636=
NR_156488.1:n.1985+1723C=
NR_156488.2:n.1997+1723C=
ENST00000237596.6:c.1906C= ENSP00000237596.2:p.Gln636=
ENST00000502363.1:c.160C= ENSP00000425289.1:p.Gln54=
ENST00000508588.5:c.160C= ENSP00000427131.1:p.Gln54=
ENST00000511337.5:n.271+1723C=
ENST00000512858.1:n.231+1723C=
XM_011532028.1:c.1681C= XP_011530330.1:p.Gln561=
XM_011532028.2:c.1681C= XP_011530330.1:p.Gln561=
XM_011532029.1:c.1186C= XP_011530331.1:p.Gln396=
XM_011532030.1:c.1066C= XP_011530332.1:p.Gln356=
XM_011532030.2:c.1066C= XP_011530332.1:p.Gln356=
XR_244632.2:n.1993+1723C=