Canonical Allele Identifier: CA357626317

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008082-G-T
• MyVariant Identifiers: chr4:g.88929234G>T (hg19) ; chr4:g.88008082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008082G>T , CM000666.2:g.88008082G>T	GRCh38
NC_000004.11:g.88929234G>T , CM000666.1:g.88929234G>T	GRCh37
NC_000004.10:g.89148258G>T	NCBI36
NG_008604.1:g.5415G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.349G>T MANE Select	ENSP00000237596.2:p.Glu117Ter
ENST00000237596.6:c.349G>T	ENSP00000237596.2:p.Glu117Ter
NM_000297.3:c.349G>T	NP_000288.1:p.Glu117Ter
XM_011532028.1:c.349G>T	XP_011530330.1:p.Glu117Ter
XR_244632.2:n.444G>T
NR_156488.1:n.436G>T
XM_011532028.2:c.349G>T	XP_011530330.1:p.Glu117Ter
NM_000297.4:c.349G>T MANE Select	NP_000288.1:p.Glu117Ter
NR_156488.2:n.448G>T