Canonical Allele Identifier: CA1065146573

Gene: PKD2

Linked Data

• dbSNP Id: rs1720760520
• gnomAD v3: 4-88065569-C-G
• gnomAD v4: 4-88065569-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065569C>G , CM000666.2:g.88065569C>G	GRCh38
NC_000004.11:g.88986721C>G , CM000666.1:g.88986721C>G	GRCh37
NC_000004.10:g.89205745C>G	NCBI36
NG_008604.1:g.62902C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240+74C>G MANE Select	ENSP00000237596.2:n.2240+74C>G
ENST00000237596.6:c.2240+74C>G	ENSP00000237596.2:n.2240+74C>G
ENST00000502363.1:c.494+74C>G	ENSP00000425289.1:n.494+74C>G
ENST00000508588.5:c.494+74C>G	ENSP00000427131.1:n.494+74C>G
ENST00000511337.5:n.492+74C>G
ENST00000512858.1:n.526C>G
NM_000297.3:c.2240+74C>G	NP_000288.1:n.2240+74C>G
XM_011532028.1:c.2015+74C>G	XP_011530330.1:n.2015+74C>G
XM_011532029.1:c.1520+74C>G	XP_011530331.1:n.1520+74C>G
XM_011532030.1:c.1400+74C>G	XP_011530332.1:n.1400+74C>G
NR_156488.1:n.2206+74C>G
XM_011532028.2:c.2015+74C>G	XP_011530330.1:n.2015+74C>G
XM_011532030.2:c.1400+74C>G	XP_011530332.1:n.1400+74C>G
NM_000297.4:c.2240+74C>G MANE Select	NP_000288.1:n.2240+74C>G
NR_156488.2:n.2218+74C>G