Canonical Allele Identifier: CA357619468

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046792-A-C
• MyVariant Identifiers: chr4:g.88967944A>C (hg19) ; chr4:g.88046792A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046792A>C , CM000666.2:g.88046792A>C	GRCh38
NC_000004.11:g.88967944A>C , CM000666.1:g.88967944A>C	GRCh37
NC_000004.10:g.89186968A>C	NCBI36
NG_008604.1:g.44125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1470A>C MANE Select	ENSP00000237596.2:p.Glu490Asp
ENST00000237596.6:c.1470A>C	ENSP00000237596.2:p.Glu490Asp
ENST00000508588.5:c.-199+3335A>C	ENSP00000427131.1:n.-199+3335A>C
NM_000297.3:c.1470A>C	NP_000288.1:p.Glu490Asp
XM_011532028.1:c.1245A>C	XP_011530330.1:p.Glu415Asp
XM_011532029.1:c.750A>C	XP_011530331.1:p.Glu250Asp
XM_011532030.1:c.630A>C	XP_011530332.1:p.Glu210Asp
XR_244632.2:n.1565A>C
NR_156488.1:n.1557A>C
XM_011532028.2:c.1245A>C	XP_011530330.1:p.Glu415Asp
XM_011532030.2:c.630A>C	XP_011530332.1:p.Glu210Asp
NM_000297.4:c.1470A>C MANE Select	NP_000288.1:p.Glu490Asp
NR_156488.2:n.1569A>C