Canonical Allele Identifier: CA357619553

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967955A>T (hg19) ; chr4:g.88046803A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046803A>T , CM000666.2:g.88046803A>T	GRCh38
NC_000004.11:g.88967955A>T , CM000666.1:g.88967955A>T	GRCh37
NC_000004.10:g.89186979A>T	NCBI36
NG_008604.1:g.44136A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1481A>T MANE Select	ENSP00000237596.2:p.Glu494Val
ENST00000237596.6:c.1481A>T	ENSP00000237596.2:p.Glu494Val
ENST00000508588.5:c.-199+3346A>T	ENSP00000427131.1:n.-199+3346A>T
NM_000297.3:c.1481A>T	NP_000288.1:p.Glu494Val
XM_011532028.1:c.1256A>T	XP_011530330.1:p.Glu419Val
XM_011532029.1:c.761A>T	XP_011530331.1:p.Glu254Val
XM_011532030.1:c.641A>T	XP_011530332.1:p.Glu214Val
XR_244632.2:n.1576A>T
NR_156488.1:n.1568A>T
XM_011532028.2:c.1256A>T	XP_011530330.1:p.Glu419Val
XM_011532030.2:c.641A>T	XP_011530332.1:p.Glu214Val
NM_000297.4:c.1481A>T MANE Select	NP_000288.1:p.Glu494Val
NR_156488.2:n.1580A>T