Canonical Allele Identifier: CA357615662

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964481A>C (hg19) ; chr4:g.88043329A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043329A>C , CM000666.2:g.88043329A>C	GRCh38
NC_000004.11:g.88964481A>C , CM000666.1:g.88964481A>C	GRCh37
NC_000004.10:g.89183505A>C	NCBI36
NG_008604.1:g.40662A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1191A>C MANE Select	ENSP00000237596.2:p.Arg397Ser
ENST00000237596.6:c.1191A>C	ENSP00000237596.2:p.Arg397Ser
ENST00000506367.1:n.638A>C
ENST00000508588.5:c.-327A>C	ENSP00000427131.1:n.-327A>C
NM_000297.3:c.1191A>C	NP_000288.1:p.Arg397Ser
XM_011532028.1:c.1095-3313A>C	XP_011530330.1:n.1095-3313A>C
XM_011532029.1:c.471A>C	XP_011530331.1:p.Arg157Ser
XM_011532030.1:c.351A>C	XP_011530332.1:p.Arg117Ser
XR_244632.2:n.1286A>C
NR_156488.1:n.1278A>C
XM_011532028.2:c.1095-3313A>C	XP_011530330.1:n.1095-3313A>C
XM_011532030.2:c.351A>C	XP_011530332.1:p.Arg117Ser
NM_000297.4:c.1191A>C MANE Select	NP_000288.1:p.Arg397Ser
NR_156488.2:n.1290A>C