Canonical Allele Identifier: CA357623671

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88061948A>G , CM000666.2:g.88061948A>G	GRCh38
NC_000004.11:g.88983100A>G , CM000666.1:g.88983100A>G	GRCh37
NC_000004.10:g.89202124A>G	NCBI36
NG_008604.1:g.59281A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2062A>G MANE Select	NP_000288.1:p.Lys688Glu
ENST00000237596.7:c.2062A>G MANE Select	ENSP00000237596.2:p.Lys688Glu
NM_000297.3:c.2062A>G	NP_000288.1:p.Lys688Glu
NR_156488.1:n.2028A>G
NR_156488.2:n.2040A>G
ENST00000237596.6:c.2062A>G	ENSP00000237596.2:p.Lys688Glu
ENST00000502363.1:c.316A>G	ENSP00000425289.1:p.Lys106Glu
ENST00000508588.5:c.316A>G	ENSP00000427131.1:p.Lys106Glu
ENST00000511337.5:n.314A>G
ENST00000512858.1:n.274A>G
XM_011532028.1:c.1837A>G	XP_011530330.1:p.Lys613Glu
XM_011532028.2:c.1837A>G	XP_011530330.1:p.Lys613Glu
XM_011532029.1:c.1342A>G	XP_011530331.1:p.Lys448Glu
XM_011532030.1:c.1222A>G	XP_011530332.1:p.Lys408Glu
XM_011532030.2:c.1222A>G	XP_011530332.1:p.Lys408Glu
XR_244632.2:n.2036A>G