Canonical Allele Identifier: CA357623301

Gene: PKD2

Linked Data

• ClinVar Variation Id: 477626
• ClinVar RCV Id: RCV000540659 ; RCV000992623 ; RCV001280901 ; RCV003403342
• dbSNP Id: rs1553927080
• COSMIC: COSM6437905
• MyVariant Identifiers: chr4:g.88979256G>A (hg19) ; chr4:g.88058104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88058104G>A , CM000666.2:g.88058104G>A	GRCh38
NC_000004.11:g.88979256G>A , CM000666.1:g.88979256G>A	GRCh37
NC_000004.10:g.89198280G>A	NCBI36
NG_008604.1:g.55437G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2019+1G>A MANE Select	ENSP00000237596.2:n.2019+1G>A
ENST00000237596.6:c.2019+1G>A	ENSP00000237596.2:n.2019+1G>A
ENST00000502363.1:c.273+1G>A	ENSP00000425289.1:n.273+1G>A
ENST00000508588.5:c.273+1G>A	ENSP00000427131.1:n.273+1G>A
ENST00000511337.5:n.271+1837G>A
ENST00000512858.1:n.231+1837G>A
NM_000297.3:c.2019+1G>A	NP_000288.1:n.2019+1G>A
XM_011532028.1:c.1794+1G>A	XP_011530330.1:n.1794+1G>A
XM_011532029.1:c.1299+1G>A	XP_011530331.1:n.1299+1G>A
XM_011532030.1:c.1179+1G>A	XP_011530332.1:n.1179+1G>A
XR_244632.2:n.1993+1837G>A
NR_156488.1:n.1985+1837G>A
XM_011532028.2:c.1794+1G>A	XP_011530330.1:n.1794+1G>A
XM_011532030.2:c.1179+1G>A	XP_011530332.1:n.1179+1G>A
NM_000297.4:c.2019+1G>A MANE Select	NP_000288.1:n.2019+1G>A
NR_156488.2:n.1997+1837G>A