Canonical Allele Identifier: CA3003948

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1391484
• ClinVar RCV Id: RCV001893099 ; RCV003320853 ; RCV003923350
• dbSNP Id: rs201328200
• ExAC: 4:88967933 T / C
• gnomAD v2: 4-88967933-T-C
• gnomAD v3: 4-88046781-T-C
• gnomAD v4: 4-88046781-T-C
• MyVariant Identifiers: chr4:g.88967933T>C (hg19) ; chr4:g.88046781T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046781T>C , CM000666.2:g.88046781T>C	GRCh38
NC_000004.11:g.88967933T>C , CM000666.1:g.88967933T>C	GRCh37
NC_000004.10:g.89186957T>C	NCBI36
NG_008604.1:g.44114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1459T>C MANE Select	ENSP00000237596.2:p.Tyr487His
ENST00000237596.6:c.1459T>C	ENSP00000237596.2:p.Tyr487His
ENST00000508588.5:c.-199+3324T>C	ENSP00000427131.1:n.-199+3324T>C
NM_000297.3:c.1459T>C	NP_000288.1:p.Tyr487His
XM_011532028.1:c.1234T>C	XP_011530330.1:p.Tyr412His
XM_011532029.1:c.739T>C	XP_011530331.1:p.Tyr247His
XM_011532030.1:c.619T>C	XP_011530332.1:p.Tyr207His
XR_244632.2:n.1554T>C
NR_156488.1:n.1546T>C
XM_011532028.2:c.1234T>C	XP_011530330.1:p.Tyr412His
XM_011532030.2:c.619T>C	XP_011530332.1:p.Tyr207His
NM_000297.4:c.1459T>C MANE Select	NP_000288.1:p.Tyr487His
NR_156488.2:n.1558T>C