Canonical Allele Identifier: CA357625266

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929003C>G (hg19) ; chr4:g.88007851C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007851C>G , CM000666.2:g.88007851C>G	GRCh38
NC_000004.11:g.88929003C>G , CM000666.1:g.88929003C>G	GRCh37
NC_000004.10:g.89148027C>G	NCBI36
NG_008604.1:g.5184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.118C>G MANE Select	ENSP00000237596.2:p.Leu40Val
ENST00000237596.6:c.118C>G	ENSP00000237596.2:p.Leu40Val
NM_000297.3:c.118C>G	NP_000288.1:p.Leu40Val
XM_011532028.1:c.118C>G	XP_011530330.1:p.Leu40Val
XR_244632.2:n.213C>G
NR_156488.1:n.205C>G
XM_011532028.2:c.118C>G	XP_011530330.1:p.Leu40Val
NM_000297.4:c.118C>G MANE Select	NP_000288.1:p.Leu40Val
NR_156488.2:n.217C>G