Canonical Allele Identifier: CA440296529

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007856-C-G
• MyVariant Identifiers: chr4:g.88929008C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007856C>G , CM000666.2:g.88007856C>G	GRCh38
NC_000004.11:g.88929008C>G , CM000666.1:g.88929008C>G	GRCh37
NC_000004.10:g.89148032C>G	NCBI36
NG_008604.1:g.5189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.123C>G MANE Select	ENSP00000237596.2:p.Ala41=
ENST00000237596.6:c.123C>G	ENSP00000237596.2:p.Ala41=
NM_000297.3:c.123C>G	NP_000288.1:p.Ala41=
XM_011532028.1:c.123C>G	XP_011530330.1:p.Ala41=
XR_244632.2:n.218C>G
NR_156488.1:n.210C>G
XM_011532028.2:c.123C>G	XP_011530330.1:p.Ala41=
NM_000297.4:c.123C>G MANE Select	NP_000288.1:p.Ala41=
NR_156488.2:n.222C>G