Canonical Allele Identifier: CA357632299

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959423G>C (hg19) ; chr4:g.88038271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038271G>C , CM000666.2:g.88038271G>C	GRCh38
NC_000004.11:g.88959423G>C , CM000666.1:g.88959423G>C	GRCh37
NC_000004.10:g.89178447G>C	NCBI36
NG_008604.1:g.35604G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.864G>C MANE Select	ENSP00000237596.2:p.Leu288Phe
ENST00000237596.6:c.864G>C	ENSP00000237596.2:p.Leu288Phe
ENST00000506367.1:n.311G>C
ENST00000506727.1:n.450G>C
NM_000297.3:c.864G>C	NP_000288.1:p.Leu288Phe
XM_011532028.1:c.864G>C	XP_011530330.1:p.Leu288Phe
XM_011532029.1:c.144G>C	XP_011530331.1:p.Leu48Phe
XM_011532030.1:c.24G>C	XP_011530332.1:p.Leu8Phe
XR_244632.2:n.959G>C
NR_156488.1:n.951G>C
XM_011532028.2:c.864G>C	XP_011530330.1:p.Leu288Phe
XM_011532030.2:c.24G>C	XP_011530332.1:p.Leu8Phe
NM_000297.4:c.864G>C MANE Select	NP_000288.1:p.Leu288Phe
NR_156488.2:n.963G>C