Canonical Allele Identifier: CA3004348

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88075516G>C , CM000666.2:g.88075516G>C	GRCh38
NC_000004.11:g.88996668G>C , CM000666.1:g.88996668G>C	GRCh37
NC_000004.10:g.89215692G>C	NCBI36
NG_008604.1:g.72849G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2729G>C MANE Select	NP_000288.1:p.Arg910Pro
ENST00000237596.7:c.2729G>C MANE Select	ENSP00000237596.2:p.Arg910Pro
NM_000297.3:c.2729G>C	NP_000288.1:p.Arg910Pro
NR_156488.1:n.2695G>C
NR_156488.2:n.2707G>C
ENST00000237596.6:c.2729G>C	ENSP00000237596.2:p.Arg910Pro
ENST00000502363.1:c.983G>C	ENSP00000425289.1:p.Arg328Pro
ENST00000508588.5:c.983G>C	ENSP00000427131.1:p.Arg328Pro
ENST00000511337.5:n.981G>C
ENST00000512858.1:n.1207G>C
XM_011532028.1:c.2504G>C	XP_011530330.1:p.Arg835Pro
XM_011532028.2:c.2504G>C	XP_011530330.1:p.Arg835Pro
XM_011532029.1:c.2009G>C	XP_011530331.1:p.Arg670Pro
XM_011532030.1:c.1889G>C	XP_011530332.1:p.Arg630Pro
XM_011532030.2:c.1889G>C	XP_011530332.1:p.Arg630Pro