Canonical Allele Identifier: CA440297049

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008234-A-G
• MyVariant Identifiers: chr4:g.88929386A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008234A>G , CM000666.2:g.88008234A>G	GRCh38
NC_000004.11:g.88929386A>G , CM000666.1:g.88929386A>G	GRCh37
NC_000004.10:g.89148410A>G	NCBI36
NG_008604.1:g.5567A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.501A>G MANE Select	ENSP00000237596.2:p.Pro167=
ENST00000237596.6:c.501A>G	ENSP00000237596.2:p.Pro167=
ENST00000506727.1:n.3A>G
NM_000297.3:c.501A>G	NP_000288.1:p.Pro167=
XM_011532028.1:c.501A>G	XP_011530330.1:p.Pro167=
XR_244632.2:n.596A>G
NR_156488.1:n.588A>G
XM_011532028.2:c.501A>G	XP_011530330.1:p.Pro167=
NM_000297.4:c.501A>G MANE Select	NP_000288.1:p.Pro167=
NR_156488.2:n.600A>G