Canonical Allele Identifier: CA357623906

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88062006T>C , CM000666.2:g.88062006T>C	GRCh38
NC_000004.11:g.88983158T>C , CM000666.1:g.88983158T>C	GRCh37
NC_000004.10:g.89202182T>C	NCBI36
NG_008604.1:g.59339T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2118+2T>C MANE Select	NP_000288.1:n.2118+2T>C
ENST00000237596.7:c.2118+2T>C MANE Select	ENSP00000237596.2:n.2118+2T>C
NM_000297.3:c.2118+2T>C	NP_000288.1:n.2118+2T>C
NR_156488.1:n.2084+2T>C
NR_156488.2:n.2096+2T>C
ENST00000237596.6:c.2118+2T>C	ENSP00000237596.2:n.2118+2T>C
ENST00000502363.1:c.372+2T>C	ENSP00000425289.1:n.372+2T>C
ENST00000508588.5:c.372+2T>C	ENSP00000427131.1:n.372+2T>C
ENST00000511337.5:n.370+2T>C
ENST00000512858.1:n.330+2T>C
XM_011532028.1:c.1893+2T>C	XP_011530330.1:n.1893+2T>C
XM_011532028.2:c.1893+2T>C	XP_011530330.1:n.1893+2T>C
XM_011532029.1:c.1398+2T>C	XP_011530331.1:n.1398+2T>C
XM_011532030.1:c.1278+2T>C	XP_011530332.1:n.1278+2T>C
XM_011532030.2:c.1278+2T>C	XP_011530332.1:n.1278+2T>C
XR_244632.2:n.2092+2T>C