Canonical Allele Identifier: CA357626002

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929166T>G (hg19) ; chr4:g.88008014T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008014T>G , CM000666.2:g.88008014T>G	GRCh38
NC_000004.11:g.88929166T>G , CM000666.1:g.88929166T>G	GRCh37
NC_000004.10:g.89148190T>G	NCBI36
NG_008604.1:g.5347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.281T>G MANE Select	ENSP00000237596.2:p.Phe94Cys
ENST00000237596.6:c.281T>G	ENSP00000237596.2:p.Phe94Cys
NM_000297.3:c.281T>G	NP_000288.1:p.Phe94Cys
XM_011532028.1:c.281T>G	XP_011530330.1:p.Phe94Cys
XR_244632.2:n.376T>G
NR_156488.1:n.368T>G
XM_011532028.2:c.281T>G	XP_011530330.1:p.Phe94Cys
NM_000297.4:c.281T>G MANE Select	NP_000288.1:p.Phe94Cys
NR_156488.2:n.380T>G