Canonical Allele Identifier: CA357625307

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929010C>A (hg19) ; chr4:g.88007858C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007858C>A , CM000666.2:g.88007858C>A	GRCh38
NC_000004.11:g.88929010C>A , CM000666.1:g.88929010C>A	GRCh37
NC_000004.10:g.89148034C>A	NCBI36
NG_008604.1:g.5191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.125C>A MANE Select	ENSP00000237596.2:p.Ala42Asp
ENST00000237596.6:c.125C>A	ENSP00000237596.2:p.Ala42Asp
NM_000297.3:c.125C>A	NP_000288.1:p.Ala42Asp
XM_011532028.1:c.125C>A	XP_011530330.1:p.Ala42Asp
XR_244632.2:n.220C>A
NR_156488.1:n.212C>A
XM_011532028.2:c.125C>A	XP_011530330.1:p.Ala42Asp
NM_000297.4:c.125C>A MANE Select	NP_000288.1:p.Ala42Asp
NR_156488.2:n.224C>A