Canonical Allele Identifier: CA440268418

Gene: PKD2

Linked Data

• dbSNP Id: rs1341996144
• gnomAD v4: 4-88065481-A-C
• MyVariant Identifiers: chr4:g.88986633A>C (hg19) ; chr4:g.88065481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065481A>C , CM000666.2:g.88065481A>C	GRCh38
NC_000004.11:g.88986633A>C , CM000666.1:g.88986633A>C	GRCh37
NC_000004.10:g.89205657A>C	NCBI36
NG_008604.1:g.62814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2226A>C MANE Select	ENSP00000237596.2:p.Arg742=
ENST00000237596.6:c.2226A>C	ENSP00000237596.2:p.Arg742=
ENST00000502363.1:c.480A>C	ENSP00000425289.1:p.Arg160=
ENST00000508588.5:c.480A>C	ENSP00000427131.1:p.Arg160=
ENST00000511337.5:n.478A>C
ENST00000512858.1:n.438A>C
NM_000297.3:c.2226A>C	NP_000288.1:p.Arg742=
XM_011532028.1:c.2001A>C	XP_011530330.1:p.Arg667=
XM_011532029.1:c.1506A>C	XP_011530331.1:p.Arg502=
XM_011532030.1:c.1386A>C	XP_011530332.1:p.Arg462=
NR_156488.1:n.2192A>C
XM_011532028.2:c.2001A>C	XP_011530330.1:p.Arg667=
XM_011532030.2:c.1386A>C	XP_011530332.1:p.Arg462=
NM_000297.4:c.2226A>C MANE Select	NP_000288.1:p.Arg742=
NR_156488.2:n.2204A>C