Canonical Allele Identifier: CA357619760

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967989T>G (hg19) ; chr4:g.88046837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046837T>G , CM000666.2:g.88046837T>G	GRCh38
NC_000004.11:g.88967989T>G , CM000666.1:g.88967989T>G	GRCh37
NC_000004.10:g.89187013T>G	NCBI36
NG_008604.1:g.44170T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1515T>G MANE Select	ENSP00000237596.2:p.Ser505Arg
ENST00000237596.6:c.1515T>G	ENSP00000237596.2:p.Ser505Arg
ENST00000508588.5:c.-199+3380T>G	ENSP00000427131.1:n.-199+3380T>G
NM_000297.3:c.1515T>G	NP_000288.1:p.Ser505Arg
XM_011532028.1:c.1290T>G	XP_011530330.1:p.Ser430Arg
XM_011532029.1:c.795T>G	XP_011530331.1:p.Ser265Arg
XM_011532030.1:c.675T>G	XP_011530332.1:p.Ser225Arg
XR_244632.2:n.1610T>G
NR_156488.1:n.1602T>G
XM_011532028.2:c.1290T>G	XP_011530330.1:p.Ser430Arg
XM_011532030.2:c.675T>G	XP_011530332.1:p.Ser225Arg
NM_000297.4:c.1515T>G MANE Select	NP_000288.1:p.Ser505Arg
NR_156488.2:n.1614T>G