Canonical Allele Identifier: CA357625034

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007807-A-T
• MyVariant Identifiers: chr4:g.88928959A>T (hg19) ; chr4:g.88007807A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007807A>T , CM000666.2:g.88007807A>T	GRCh38
NC_000004.11:g.88928959A>T , CM000666.1:g.88928959A>T	GRCh37
NC_000004.10:g.89147983A>T	NCBI36
NG_008604.1:g.5140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.74A>T MANE Select	ENSP00000237596.2:p.Asp25Val
ENST00000237596.6:c.74A>T	ENSP00000237596.2:p.Asp25Val
NM_000297.3:c.74A>T	NP_000288.1:p.Asp25Val
XM_011532028.1:c.74A>T	XP_011530330.1:p.Asp25Val
XR_244632.2:n.169A>T
NR_156488.1:n.161A>T
XM_011532028.2:c.74A>T	XP_011530330.1:p.Asp25Val
NM_000297.4:c.74A>T MANE Select	NP_000288.1:p.Asp25Val
NR_156488.2:n.173A>T