Canonical Allele Identifier: CA357622726

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88056144G>C , CM000666.2:g.88056144G>C	GRCh38
NC_000004.11:g.88977296G>C , CM000666.1:g.88977296G>C	GRCh37
NC_000004.10:g.89196320G>C	NCBI36
NG_008604.1:g.53477G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1775G>C MANE Select	NP_000288.1:p.Arg592Pro
ENST00000237596.7:c.1775G>C MANE Select	ENSP00000237596.2:p.Arg592Pro
NM_000297.3:c.1775G>C	NP_000288.1:p.Arg592Pro
NR_156488.1:n.1862G>C
NR_156488.2:n.1874G>C
ENST00000237596.6:c.1775G>C	ENSP00000237596.2:p.Arg592Pro
ENST00000502363.1:c.29G>C	ENSP00000425289.1:p.Arg10Pro
ENST00000508588.5:c.29G>C	ENSP00000427131.1:p.Arg10Pro
ENST00000511337.5:n.148G>C
ENST00000512858.1:n.108G>C
XM_011532028.1:c.1550G>C	XP_011530330.1:p.Arg517Pro
XM_011532028.2:c.1550G>C	XP_011530330.1:p.Arg517Pro
XM_011532029.1:c.1055G>C	XP_011530331.1:p.Arg352Pro
XM_011532030.1:c.935G>C	XP_011530332.1:p.Arg312Pro
XM_011532030.2:c.935G>C	XP_011530332.1:p.Arg312Pro
XR_244632.2:n.1870G>C