Canonical Allele Identifier: CA357624825

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88928910C>G (hg19) ; chr4:g.88007758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007758C>G , CM000666.2:g.88007758C>G	GRCh38
NC_000004.11:g.88928910C>G , CM000666.1:g.88928910C>G	GRCh37
NC_000004.10:g.89147934C>G	NCBI36
NG_008604.1:g.5091C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.25C>G MANE Select	ENSP00000237596.2:p.Pro9Ala
ENST00000237596.6:c.25C>G	ENSP00000237596.2:p.Pro9Ala
NM_000297.3:c.25C>G	NP_000288.1:p.Pro9Ala
XM_011532028.1:c.25C>G	XP_011530330.1:p.Pro9Ala
XR_244632.2:n.120C>G
NR_156488.1:n.112C>G
XM_011532028.2:c.25C>G	XP_011530330.1:p.Pro9Ala
NM_000297.4:c.25C>G MANE Select	NP_000288.1:p.Pro9Ala
NR_156488.2:n.124C>G