Canonical Allele Identifier: CA799593960

Gene: PKD2

Linked Data

• dbSNP Id: rs1331797946
• gnomAD v3: 4-88008382-G-T
• gnomAD v4: 4-88008382-G-T
• MyVariant Identifiers: chr4:g.88929534G>T (hg19) ; chr4:g.88008382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008382G>T , CM000666.2:g.88008382G>T	GRCh38
NC_000004.11:g.88929534G>T , CM000666.1:g.88929534G>T	GRCh37
NC_000004.10:g.89148558G>T	NCBI36
NG_008604.1:g.5715G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.595+54G>T MANE Select	ENSP00000237596.2:n.595+54G>T
ENST00000237596.6:c.595+54G>T	ENSP00000237596.2:n.595+54G>T
ENST00000506727.1:n.97+54G>T
NM_000297.3:c.595+54G>T	NP_000288.1:n.595+54G>T
XM_011532028.1:c.595+54G>T	XP_011530330.1:n.595+54G>T
XR_244632.2:n.690+54G>T
NR_156488.1:n.682+54G>T
XM_011532028.2:c.595+54G>T	XP_011530330.1:n.595+54G>T
NM_000297.4:c.595+54G>T MANE Select	NP_000288.1:n.595+54G>T
NR_156488.2:n.694+54G>T