Canonical Allele Identifier: CA357618521

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2701359
• ClinVar RCV Id: RCV003585484
• MyVariant Identifiers: chr4:g.88967820G>C (hg19) ; chr4:g.88046668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046668G>C , CM000666.2:g.88046668G>C	GRCh38
NC_000004.11:g.88967820G>C , CM000666.1:g.88967820G>C	GRCh37
NC_000004.10:g.89186844G>C	NCBI36
NG_008604.1:g.44001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1346G>C MANE Select	ENSP00000237596.2:p.Gly449Ala
ENST00000237596.6:c.1346G>C	ENSP00000237596.2:p.Gly449Ala
ENST00000508588.5:c.-199+3211G>C	ENSP00000427131.1:n.-199+3211G>C
NM_000297.3:c.1346G>C	NP_000288.1:p.Gly449Ala
XM_011532028.1:c.1121G>C	XP_011530330.1:p.Gly374Ala
XM_011532029.1:c.626G>C	XP_011530331.1:p.Gly209Ala
XM_011532030.1:c.506G>C	XP_011530332.1:p.Gly169Ala
XR_244632.2:n.1441G>C
NR_156488.1:n.1433G>C
XM_011532028.2:c.1121G>C	XP_011530330.1:p.Gly374Ala
XM_011532030.2:c.506G>C	XP_011530332.1:p.Gly169Ala
NM_000297.4:c.1346G>C MANE Select	NP_000288.1:p.Gly449Ala
NR_156488.2:n.1445G>C