Canonical Allele Identifier: CA2671365413

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008471-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008471C>G , CM000666.2:g.88008471C>G	GRCh38
NC_000004.11:g.88929623C>G , CM000666.1:g.88929623C>G	GRCh37
NC_000004.10:g.89148647C>G	NCBI36
NG_008604.1:g.5804C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+143C>G MANE Select	ENSP00000237596.2:n.595+143C>G
ENST00000237596.6:c.595+143C>G	ENSP00000237596.2:n.595+143C>G
ENST00000506727.1:n.97+143C>G
NM_000297.3:c.595+143C>G	NP_000288.1:n.595+143C>G
XM_011532028.1:c.595+143C>G	XP_011530330.1:n.595+143C>G
XR_244632.2:n.690+143C>G
NR_156488.1:n.682+143C>G
XM_011532028.2:c.595+143C>G	XP_011530330.1:n.595+143C>G
NM_000297.4:c.595+143C>G MANE Select	NP_000288.1:n.595+143C>G
NR_156488.2:n.694+143C>G