Canonical Allele Identifier: CA357627022

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929414C>T (hg19) ; chr4:g.88008262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008262C>T , CM000666.2:g.88008262C>T	GRCh38
NC_000004.11:g.88929414C>T , CM000666.1:g.88929414C>T	GRCh37
NC_000004.10:g.89148438C>T	NCBI36
NG_008604.1:g.5595C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.529C>T MANE Select	ENSP00000237596.2:p.His177Tyr
ENST00000237596.6:c.529C>T	ENSP00000237596.2:p.His177Tyr
ENST00000506727.1:n.31C>T
NM_000297.3:c.529C>T	NP_000288.1:p.His177Tyr
XM_011532028.1:c.529C>T	XP_011530330.1:p.His177Tyr
XR_244632.2:n.624C>T
NR_156488.1:n.616C>T
XM_011532028.2:c.529C>T	XP_011530330.1:p.His177Tyr
NM_000297.4:c.529C>T MANE Select	NP_000288.1:p.His177Tyr
NR_156488.2:n.628C>T