Canonical Allele Identifier: CA357625349

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007866-G-T
• MyVariant Identifiers: chr4:g.88929018G>T (hg19) ; chr4:g.88007866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007866G>T , CM000666.2:g.88007866G>T	GRCh38
NC_000004.11:g.88929018G>T , CM000666.1:g.88929018G>T	GRCh37
NC_000004.10:g.89148042G>T	NCBI36
NG_008604.1:g.5199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.133G>T MANE Select	ENSP00000237596.2:p.Gly45Cys
ENST00000237596.6:c.133G>T	ENSP00000237596.2:p.Gly45Cys
NM_000297.3:c.133G>T	NP_000288.1:p.Gly45Cys
XM_011532028.1:c.133G>T	XP_011530330.1:p.Gly45Cys
XR_244632.2:n.228G>T
NR_156488.1:n.220G>T
XM_011532028.2:c.133G>T	XP_011530330.1:p.Gly45Cys
NM_000297.4:c.133G>T MANE Select	NP_000288.1:p.Gly45Cys
NR_156488.2:n.232G>T