Canonical Allele Identifier: CA1474562067

Gene: PKD2

Linked Data

• dbSNP Id: rs1364017901
• gnomAD v4: 4-88007680-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007680G>T , CM000666.2:g.88007680G>T	GRCh38
NC_000004.11:g.88928832G>T , CM000666.1:g.88928832G>T	GRCh37
NC_000004.10:g.89147856G>T	NCBI36
NG_008604.1:g.5013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.-54G>T MANE Select	ENSP00000237596.2:n.-54G>T
ENST00000237596.6:c.-54G>T	ENSP00000237596.2:n.-54G>T
NM_000297.3:c.-54G>T	NP_000288.1:n.-54G>T
XM_011532028.1:c.-54G>T	XP_011530330.1:n.-54G>T
XR_244632.2:n.42G>T
NR_156488.1:n.34G>T
XM_011532028.2:c.-54G>T	XP_011530330.1:n.-54G>T
NM_000297.4:c.-54G>T MANE Select	NP_000288.1:n.-54G>T
NR_156488.2:n.46G>T