Canonical Allele Identifier: CA357632861

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959540A>C (hg19) ; chr4:g.88038388A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038388A>C , CM000666.2:g.88038388A>C	GRCh38
NC_000004.11:g.88959540A>C , CM000666.1:g.88959540A>C	GRCh37
NC_000004.10:g.89178564A>C	NCBI36
NG_008604.1:g.35721A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.981A>C MANE Select	ENSP00000237596.2:p.Arg327Ser
ENST00000237596.6:c.981A>C	ENSP00000237596.2:p.Arg327Ser
ENST00000506367.1:n.428A>C
NM_000297.3:c.981A>C	NP_000288.1:p.Arg327Ser
XM_011532028.1:c.981A>C	XP_011530330.1:p.Arg327Ser
XM_011532029.1:c.261A>C	XP_011530331.1:p.Arg87Ser
XM_011532030.1:c.141A>C	XP_011530332.1:p.Arg47Ser
XR_244632.2:n.1076A>C
NR_156488.1:n.1068A>C
XM_011532028.2:c.981A>C	XP_011530330.1:p.Arg327Ser
XM_011532030.2:c.141A>C	XP_011530332.1:p.Arg47Ser
NM_000297.4:c.981A>C MANE Select	NP_000288.1:p.Arg327Ser
NR_156488.2:n.1080A>C