Canonical Allele Identifier: CA357615462

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2575893
• ClinVar RCV Id: RCV003321459
• MyVariant Identifiers: chr4:g.88964419A>C (hg19) ; chr4:g.88043267A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043267A>C , CM000666.2:g.88043267A>C	GRCh38
NC_000004.11:g.88964419A>C , CM000666.1:g.88964419A>C	GRCh37
NC_000004.10:g.89183443A>C	NCBI36
NG_008604.1:g.40600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1129A>C MANE Select	ENSP00000237596.2:p.Ser377Arg
ENST00000237596.6:c.1129A>C	ENSP00000237596.2:p.Ser377Arg
ENST00000506367.1:n.576A>C
ENST00000508588.5:c.-389A>C	ENSP00000427131.1:n.-389A>C
NM_000297.3:c.1129A>C	NP_000288.1:p.Ser377Arg
XM_011532028.1:c.1095-3375A>C	XP_011530330.1:n.1095-3375A>C
XM_011532029.1:c.409A>C	XP_011530331.1:p.Ser137Arg
XM_011532030.1:c.289A>C	XP_011530332.1:p.Ser97Arg
XR_244632.2:n.1224A>C
NR_156488.1:n.1216A>C
XM_011532028.2:c.1095-3375A>C	XP_011530330.1:n.1095-3375A>C
XM_011532030.2:c.289A>C	XP_011530332.1:p.Ser97Arg
NM_000297.4:c.1129A>C MANE Select	NP_000288.1:p.Ser377Arg
NR_156488.2:n.1228A>C