Canonical Allele Identifier: CA357619895

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968021T>A (hg19) ; chr4:g.88046869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046869T>A , CM000666.2:g.88046869T>A	GRCh38
NC_000004.11:g.88968021T>A , CM000666.1:g.88968021T>A	GRCh37
NC_000004.10:g.89187045T>A	NCBI36
NG_008604.1:g.44202T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1547T>A MANE Select	ENSP00000237596.2:p.Val516Glu
ENST00000237596.6:c.1547T>A	ENSP00000237596.2:p.Val516Glu
ENST00000508588.5:c.-199+3412T>A	ENSP00000427131.1:n.-199+3412T>A
NM_000297.3:c.1547T>A	NP_000288.1:p.Val516Glu
XM_011532028.1:c.1322T>A	XP_011530330.1:p.Val441Glu
XM_011532029.1:c.827T>A	XP_011530331.1:p.Val276Glu
XM_011532030.1:c.707T>A	XP_011530332.1:p.Val236Glu
XR_244632.2:n.1642T>A
NR_156488.1:n.1634T>A
XM_011532028.2:c.1322T>A	XP_011530330.1:p.Val441Glu
XM_011532030.2:c.707T>A	XP_011530332.1:p.Val236Glu
NM_000297.4:c.1547T>A MANE Select	NP_000288.1:p.Val516Glu
NR_156488.2:n.1646T>A