Canonical Allele Identifier: CA440296905

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959538A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038386A>C , CM000666.2:g.88038386A>C	GRCh38
NC_000004.11:g.88959538A>C , CM000666.1:g.88959538A>C	GRCh37
NC_000004.10:g.89178562A>C	NCBI36
NG_008604.1:g.35719A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.979A>C MANE Select	ENSP00000237596.2:p.Arg327=
ENST00000237596.6:c.979A>C	ENSP00000237596.2:p.Arg327=
ENST00000506367.1:n.426A>C
NM_000297.3:c.979A>C	NP_000288.1:p.Arg327=
XM_011532028.1:c.979A>C	XP_011530330.1:p.Arg327=
XM_011532029.1:c.259A>C	XP_011530331.1:p.Arg87=
XM_011532030.1:c.139A>C	XP_011530332.1:p.Arg47=
XR_244632.2:n.1074A>C
NR_156488.1:n.1066A>C
XM_011532028.2:c.979A>C	XP_011530330.1:p.Arg327=
XM_011532030.2:c.139A>C	XP_011530332.1:p.Arg47=
NM_000297.4:c.979A>C MANE Select	NP_000288.1:p.Arg327=
NR_156488.2:n.1078A>C