Canonical Allele Identifier: CA3004170

Gene: PKD2

Linked Data

• dbSNP Id: rs767461114
• ExAC: 4:88986674 G / A
• gnomAD v2: 4-88986674-G-A
• MyVariant Identifiers: chr4:g.88986674G>A (hg19) ; chr4:g.88065522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065522G>A , CM000666.2:g.88065522G>A	GRCh38
NC_000004.11:g.88986674G>A , CM000666.1:g.88986674G>A	GRCh37
NC_000004.10:g.89205698G>A	NCBI36
NG_008604.1:g.62855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240+27G>A MANE Select	ENSP00000237596.2:n.2240+27G>A
ENST00000237596.6:c.2240+27G>A	ENSP00000237596.2:n.2240+27G>A
ENST00000502363.1:c.494+27G>A	ENSP00000425289.1:n.494+27G>A
ENST00000508588.5:c.494+27G>A	ENSP00000427131.1:n.494+27G>A
ENST00000511337.5:n.492+27G>A
ENST00000512858.1:n.479G>A
NM_000297.3:c.2240+27G>A	NP_000288.1:n.2240+27G>A
XM_011532028.1:c.2015+27G>A	XP_011530330.1:n.2015+27G>A
XM_011532029.1:c.1520+27G>A	XP_011530331.1:n.1520+27G>A
XM_011532030.1:c.1400+27G>A	XP_011530332.1:n.1400+27G>A
NR_156488.1:n.2206+27G>A
XM_011532028.2:c.2015+27G>A	XP_011530330.1:n.2015+27G>A
XM_011532030.2:c.1400+27G>A	XP_011530332.1:n.1400+27G>A
NM_000297.4:c.2240+27G>A MANE Select	NP_000288.1:n.2240+27G>A
NR_156488.2:n.2218+27G>A