Canonical Allele Identifier: CA357615421

Gene: PKD2

Linked Data

• gnomAD v4: 4-88043249-G-T
• MyVariant Identifiers: chr4:g.88964401G>T (hg19) ; chr4:g.88043249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043249G>T , CM000666.2:g.88043249G>T	GRCh38
NC_000004.11:g.88964401G>T , CM000666.1:g.88964401G>T	GRCh37
NC_000004.10:g.89183425G>T	NCBI36
NG_008604.1:g.40582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1111G>T MANE Select	ENSP00000237596.2:p.Glu371Ter
ENST00000237596.6:c.1111G>T	ENSP00000237596.2:p.Glu371Ter
ENST00000506367.1:n.558G>T
NM_000297.3:c.1111G>T	NP_000288.1:p.Glu371Ter
XM_011532028.1:c.1095-3393G>T	XP_011530330.1:n.1095-3393G>T
XM_011532029.1:c.391G>T	XP_011530331.1:p.Glu131Ter
XM_011532030.1:c.271G>T	XP_011530332.1:p.Glu91Ter
XR_244632.2:n.1206G>T
NR_156488.1:n.1198G>T
XM_011532028.2:c.1095-3393G>T	XP_011530330.1:n.1095-3393G>T
XM_011532030.2:c.271G>T	XP_011530332.1:p.Glu91Ter
NM_000297.4:c.1111G>T MANE Select	NP_000288.1:p.Glu371Ter
NR_156488.2:n.1210G>T