Canonical Allele Identifier: CA3003951

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2049847
• ClinVar RCV Id: RCV002914225
• dbSNP Id: rs139753109
• ExAC: 4:88967951 T / C
• gnomAD v2: 4-88967951-T-C
• gnomAD v3: 4-88046799-T-C
• gnomAD v4: 4-88046799-T-C
• MyVariant Identifiers: chr4:g.88967951T>C (hg19) ; chr4:g.88046799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046799T>C , CM000666.2:g.88046799T>C	GRCh38
NC_000004.11:g.88967951T>C , CM000666.1:g.88967951T>C	GRCh37
NC_000004.10:g.89186975T>C	NCBI36
NG_008604.1:g.44132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1477T>C MANE Select	ENSP00000237596.2:p.Leu493=
ENST00000237596.6:c.1477T>C	ENSP00000237596.2:p.Leu493=
ENST00000508588.5:c.-199+3342T>C	ENSP00000427131.1:n.-199+3342T>C
NM_000297.3:c.1477T>C	NP_000288.1:p.Leu493=
XM_011532028.1:c.1252T>C	XP_011530330.1:p.Leu418=
XM_011532029.1:c.757T>C	XP_011530331.1:p.Leu253=
XM_011532030.1:c.637T>C	XP_011530332.1:p.Leu213=
XR_244632.2:n.1572T>C
NR_156488.1:n.1564T>C
XM_011532028.2:c.1252T>C	XP_011530330.1:p.Leu418=
XM_011532030.2:c.637T>C	XP_011530332.1:p.Leu213=
NM_000297.4:c.1477T>C MANE Select	NP_000288.1:p.Leu493=
NR_156488.2:n.1576T>C