Canonical Allele Identifier: CA440262107

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964508T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043356T>C , CM000666.2:g.88043356T>C	GRCh38
NC_000004.11:g.88964508T>C , CM000666.1:g.88964508T>C	GRCh37
NC_000004.10:g.89183532T>C	NCBI36
NG_008604.1:g.40689T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1218T>C MANE Select	ENSP00000237596.2:p.Val406=
ENST00000237596.6:c.1218T>C	ENSP00000237596.2:p.Val406=
ENST00000506367.1:n.665T>C
ENST00000508588.5:c.-300T>C	ENSP00000427131.1:n.-300T>C
NM_000297.3:c.1218T>C	NP_000288.1:p.Val406=
XM_011532028.1:c.1095-3286T>C	XP_011530330.1:n.1095-3286T>C
XM_011532029.1:c.498T>C	XP_011530331.1:p.Val166=
XM_011532030.1:c.378T>C	XP_011530332.1:p.Val126=
XR_244632.2:n.1313T>C
NR_156488.1:n.1305T>C
XM_011532028.2:c.1095-3286T>C	XP_011530330.1:n.1095-3286T>C
XM_011532030.2:c.378T>C	XP_011530332.1:p.Val126=
NM_000297.4:c.1218T>C MANE Select	NP_000288.1:p.Val406=
NR_156488.2:n.1317T>C