Canonical Allele Identifier: CA3004309

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88074957G>A , CM000666.2:g.88074957G>A	GRCh38
NC_000004.11:g.88996109G>A , CM000666.1:g.88996109G>A	GRCh37
NC_000004.10:g.89215133G>A	NCBI36
NG_008604.1:g.72290G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2668G>A MANE Select	NP_000288.1:p.Glu890Lys
ENST00000237596.7:c.2668G>A MANE Select	ENSP00000237596.2:p.Glu890Lys
NM_000297.3:c.2668G>A	NP_000288.1:p.Glu890Lys
NR_156488.1:n.2634G>A
NR_156488.2:n.2646G>A
ENST00000237596.6:c.2668G>A	ENSP00000237596.2:p.Glu890Lys
ENST00000502363.1:c.922G>A	ENSP00000425289.1:p.Glu308Lys
ENST00000508588.5:c.922G>A	ENSP00000427131.1:p.Glu308Lys
ENST00000511337.5:n.920G>A
ENST00000512858.1:n.1146G>A
XM_011532028.1:c.2443G>A	XP_011530330.1:p.Glu815Lys
XM_011532028.2:c.2443G>A	XP_011530330.1:p.Glu815Lys
XM_011532029.1:c.1948G>A	XP_011530331.1:p.Glu650Lys
XM_011532030.1:c.1828G>A	XP_011530332.1:p.Glu610Lys
XM_011532030.2:c.1828G>A	XP_011530332.1:p.Glu610Lys