Canonical Allele Identifier: CA357615375

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043241A>G , CM000666.2:g.88043241A>G	GRCh38
NC_000004.11:g.88964393A>G , CM000666.1:g.88964393A>G	GRCh37
NC_000004.10:g.89183417A>G	NCBI36
NG_008604.1:g.40574A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1103A>G MANE Select	NP_000288.1:p.Tyr368Cys
ENST00000237596.7:c.1103A>G MANE Select	ENSP00000237596.2:p.Tyr368Cys
NM_000297.3:c.1103A>G	NP_000288.1:p.Tyr368Cys
NR_156488.1:n.1190A>G
NR_156488.2:n.1202A>G
ENST00000237596.6:c.1103A>G	ENSP00000237596.2:p.Tyr368Cys
ENST00000506367.1:n.550A>G
XM_011532028.1:c.1095-3401A>G	XP_011530330.1:n.1095-3401A>G
XM_011532028.2:c.1095-3401A>G	XP_011530330.1:n.1095-3401A>G
XM_011532029.1:c.383A>G	XP_011530331.1:p.Tyr128Cys
XM_011532030.1:c.263A>G	XP_011530332.1:p.Tyr88Cys
XM_011532030.2:c.263A>G	XP_011530332.1:p.Tyr88Cys
XR_244632.2:n.1198A>G