Canonical Allele Identifier: CA357615800

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964509G>C (hg19) ; chr4:g.88043357G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043357G>C , CM000666.2:g.88043357G>C	GRCh38
NC_000004.11:g.88964509G>C , CM000666.1:g.88964509G>C	GRCh37
NC_000004.10:g.89183533G>C	NCBI36
NG_008604.1:g.40690G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1219G>C MANE Select	ENSP00000237596.2:p.Ala407Pro
ENST00000237596.6:c.1219G>C	ENSP00000237596.2:p.Ala407Pro
ENST00000506367.1:n.666G>C
ENST00000508588.5:c.-299G>C	ENSP00000427131.1:n.-299G>C
NM_000297.3:c.1219G>C	NP_000288.1:p.Ala407Pro
XM_011532028.1:c.1095-3285G>C	XP_011530330.1:n.1095-3285G>C
XM_011532029.1:c.499G>C	XP_011530331.1:p.Ala167Pro
XM_011532030.1:c.379G>C	XP_011530332.1:p.Ala127Pro
XR_244632.2:n.1314G>C
NR_156488.1:n.1306G>C
XM_011532028.2:c.1095-3285G>C	XP_011530330.1:n.1095-3285G>C
XM_011532030.2:c.379G>C	XP_011530332.1:p.Ala127Pro
NM_000297.4:c.1219G>C MANE Select	NP_000288.1:p.Ala407Pro
NR_156488.2:n.1318G>C