Canonical Allele Identifier: CA357633349

Gene: PKD2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038502G>C , CM000666.2:g.88038502G>C	GRCh38
NC_000004.11:g.88959654G>C , CM000666.1:g.88959654G>C	GRCh37
NC_000004.10:g.89178678G>C	NCBI36
NG_008604.1:g.35835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1094+1G>C MANE Select	ENSP00000237596.2:n.1094+1G>C
ENST00000237596.6:c.1094+1G>C	ENSP00000237596.2:n.1094+1G>C
ENST00000506367.1:n.541+1G>C
NM_000297.3:c.1094+1G>C	NP_000288.1:n.1094+1G>C
XM_011532028.1:c.1094+1G>C	XP_011530330.1:n.1094+1G>C
XM_011532029.1:c.374+1G>C	XP_011530331.1:n.374+1G>C
XM_011532030.1:c.254+1G>C	XP_011530332.1:n.254+1G>C
XR_244632.2:n.1189+1G>C
NR_156488.1:n.1181+1G>C
XM_011532028.2:c.1094+1G>C	XP_011530330.1:n.1094+1G>C
XM_011532030.2:c.254+1G>C	XP_011530332.1:n.254+1G>C
NM_000297.4:c.1094+1G>C MANE Select	NP_000288.1:n.1094+1G>C
NR_156488.2:n.1193+1G>C