Canonical Allele Identifier: CA357619535

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967953G>C (hg19) ; chr4:g.88046801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046801G>C , CM000666.2:g.88046801G>C	GRCh38
NC_000004.11:g.88967953G>C , CM000666.1:g.88967953G>C	GRCh37
NC_000004.10:g.89186977G>C	NCBI36
NG_008604.1:g.44134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1479G>C MANE Select	ENSP00000237596.2:p.Leu493Phe
ENST00000237596.6:c.1479G>C	ENSP00000237596.2:p.Leu493Phe
ENST00000508588.5:c.-199+3344G>C	ENSP00000427131.1:n.-199+3344G>C
NM_000297.3:c.1479G>C	NP_000288.1:p.Leu493Phe
XM_011532028.1:c.1254G>C	XP_011530330.1:p.Leu418Phe
XM_011532029.1:c.759G>C	XP_011530331.1:p.Leu253Phe
XM_011532030.1:c.639G>C	XP_011530332.1:p.Leu213Phe
XR_244632.2:n.1574G>C
NR_156488.1:n.1566G>C
XM_011532028.2:c.1254G>C	XP_011530330.1:p.Leu418Phe
XM_011532030.2:c.639G>C	XP_011530332.1:p.Leu213Phe
NM_000297.4:c.1479G>C MANE Select	NP_000288.1:p.Leu493Phe
NR_156488.2:n.1578G>C