Canonical Allele Identifier: CA357627199

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88929459A>T (hg19) ; chr4:g.88008307A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008307A>T , CM000666.2:g.88008307A>T	GRCh38
NC_000004.11:g.88929459A>T , CM000666.1:g.88929459A>T	GRCh37
NC_000004.10:g.89148483A>T	NCBI36
NG_008604.1:g.5640A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.574A>T MANE Select	ENSP00000237596.2:p.Arg192Trp
ENST00000237596.6:c.574A>T	ENSP00000237596.2:p.Arg192Trp
ENST00000506727.1:n.76A>T
NM_000297.3:c.574A>T	NP_000288.1:p.Arg192Trp
XM_011532028.1:c.574A>T	XP_011530330.1:p.Arg192Trp
XR_244632.2:n.669A>T
NR_156488.1:n.661A>T
XM_011532028.2:c.574A>T	XP_011530330.1:p.Arg192Trp
NM_000297.4:c.574A>T MANE Select	NP_000288.1:p.Arg192Trp
NR_156488.2:n.673A>T