Canonical Allele Identifier: CA348383

Gene: PKD2

Linked Data

• ClinVar Variation Id: 219985
• ClinVar RCV Id: RCV000204140 ; RCV000253113 ; RCV001000584 ; RCV001258257 ; RCV001292230 ; RCV001705172
• dbSNP Id: rs2234917
• ExAC: 4:88989089 A / C
• gnomAD v2: 4-88989089-A-C
• gnomAD v3: 4-88067937-A-C
• gnomAD v4: 4-88067937-A-C
• MyVariant Identifiers: chr4:g.88989089A>C (hg19) ; chr4:g.88067937A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067937A>C , CM000666.2:g.88067937A>C	GRCh38
NC_000004.11:g.88989089A>C , CM000666.1:g.88989089A>C	GRCh37
NC_000004.10:g.89208113A>C	NCBI36
NG_008604.1:g.65270A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2398A>C MANE Select	ENSP00000237596.2:p.Met800Leu
ENST00000237596.6:c.2398A>C	ENSP00000237596.2:p.Met800Leu
ENST00000502363.1:c.652A>C	ENSP00000425289.1:p.Met218Leu
ENST00000508588.5:c.652A>C	ENSP00000427131.1:p.Met218Leu
ENST00000511337.5:n.650A>C
ENST00000512858.1:n.876A>C
NM_000297.3:c.2398A>C	NP_000288.1:p.Met800Leu
XM_011532028.1:c.2173A>C	XP_011530330.1:p.Met725Leu
XM_011532029.1:c.1678A>C	XP_011530331.1:p.Met560Leu
XM_011532030.1:c.1558A>C	XP_011530332.1:p.Met520Leu
NR_156488.1:n.2364A>C
XM_011532028.2:c.2173A>C	XP_011530330.1:p.Met725Leu
XM_011532030.2:c.1558A>C	XP_011530332.1:p.Met520Leu
NM_000297.4:c.2398A>C MANE Select	NP_000288.1:p.Met800Leu
NR_156488.2:n.2376A>C