Canonical Allele Identifier: CA1474562094

Gene: PKD2

Linked Data

• dbSNP Id: rs1413388495
• gnomAD v4: 4-88007704-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007704G>T , CM000666.2:g.88007704G>T	GRCh38
NC_000004.11:g.88928856G>T , CM000666.1:g.88928856G>T	GRCh37
NC_000004.10:g.89147880G>T	NCBI36
NG_008604.1:g.5037G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.-30G>T MANE Select	ENSP00000237596.2:n.-30G>T
ENST00000237596.6:c.-30G>T	ENSP00000237596.2:n.-30G>T
NM_000297.3:c.-30G>T	NP_000288.1:n.-30G>T
XM_011532028.1:c.-30G>T	XP_011530330.1:n.-30G>T
XR_244632.2:n.66G>T
NR_156488.1:n.58G>T
XM_011532028.2:c.-30G>T	XP_011530330.1:n.-30G>T
NM_000297.4:c.-30G>T MANE Select	NP_000288.1:n.-30G>T
NR_156488.2:n.70G>T