Canonical Allele Identifier: CA357623896

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88062005G>C , CM000666.2:g.88062005G>C	GRCh38
NC_000004.11:g.88983157G>C , CM000666.1:g.88983157G>C	GRCh37
NC_000004.10:g.89202181G>C	NCBI36
NG_008604.1:g.59338G>C

Transcript Alleles

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