Canonical Allele Identifier: CA3003990

Gene: PKD2

Linked Data

• ClinVar Variation Id: 255790
• ClinVar RCV Id: RCV000254194 ; RCV000725986 ; RCV002057336
• dbSNP Id: rs374450718
• ExAC: 4:88973139 T / C
• gnomAD v2: 4-88973139-T-C
• gnomAD v3: 4-88051987-T-C
• gnomAD v4: 4-88051987-T-C
• MyVariant Identifiers: chr4:g.88973139T>C (hg19) ; chr4:g.88051987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88051987T>C , CM000666.2:g.88051987T>C	GRCh38
NC_000004.11:g.88973139T>C , CM000666.1:g.88973139T>C	GRCh37
NC_000004.10:g.89192163T>C	NCBI36
NG_008604.1:g.49320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1549-4T>C MANE Select	ENSP00000237596.2:n.1549-4T>C
ENST00000237596.6:c.1549-4T>C	ENSP00000237596.2:n.1549-4T>C
ENST00000508588.5:c.-198-4T>C	ENSP00000427131.1:n.-198-4T>C
NM_000297.3:c.1549-4T>C	NP_000288.1:n.1549-4T>C
XM_011532028.1:c.1324-4T>C	XP_011530330.1:n.1324-4T>C
XM_011532029.1:c.829-4T>C	XP_011530331.1:n.829-4T>C
XM_011532030.1:c.709-4T>C	XP_011530332.1:n.709-4T>C
XR_244632.2:n.1644-4T>C
NR_156488.1:n.1636-4T>C
XM_011532028.2:c.1324-4T>C	XP_011530330.1:n.1324-4T>C
XM_011532030.2:c.709-4T>C	XP_011530332.1:n.709-4T>C
NM_000297.4:c.1549-4T>C MANE Select	NP_000288.1:n.1549-4T>C
NR_156488.2:n.1648-4T>C