Canonical Allele Identifier: CA357632871

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959542A>C (hg19) ; chr4:g.88038390A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038390A>C , CM000666.2:g.88038390A>C	GRCh38
NC_000004.11:g.88959542A>C , CM000666.1:g.88959542A>C	GRCh37
NC_000004.10:g.89178566A>C	NCBI36
NG_008604.1:g.35723A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.983A>C MANE Select	ENSP00000237596.2:p.Asn328Thr
ENST00000237596.6:c.983A>C	ENSP00000237596.2:p.Asn328Thr
ENST00000506367.1:n.430A>C
NM_000297.3:c.983A>C	NP_000288.1:p.Asn328Thr
XM_011532028.1:c.983A>C	XP_011530330.1:p.Asn328Thr
XM_011532029.1:c.263A>C	XP_011530331.1:p.Asn88Thr
XM_011532030.1:c.143A>C	XP_011530332.1:p.Asn48Thr
XR_244632.2:n.1078A>C
NR_156488.1:n.1070A>C
XM_011532028.2:c.983A>C	XP_011530330.1:p.Asn328Thr
XM_011532030.2:c.143A>C	XP_011530332.1:p.Asn48Thr
NM_000297.4:c.983A>C MANE Select	NP_000288.1:p.Asn328Thr
NR_156488.2:n.1082A>C