Canonical Allele Identifier: CA2103255

Gene: PNKD

Linked Data

• ClinVar Variation Id: 536502
• ClinVar RCV Id: RCV000644969
• dbSNP Id: rs780594684
• ExAC: 2:219136184 A / T
• gnomAD v2: 2-219136184-A-T
• gnomAD v3: 2-218271461-A-T
• gnomAD v4: 2-218271461-A-T
• MyVariant Identifiers: chr2:g.219136184A>T (hg19) ; chr2:g.218271461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218271461A>T , CM000664.2:g.218271461A>T	GRCh38
NC_000002.11:g.219136184A>T , CM000664.1:g.219136184A>T	GRCh37
NC_000002.10:g.218844428A>T	NCBI36
NG_017060.1:g.6070A>T
NG_033036.1:g.3710T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.148A>T	ENSP00000414400.3:p.Lys50Ter
ENST00000472650.2:n.173A>T
ENST00000684905.1:n.159A>T
ENST00000685415.1:c.148A>T	ENSP00000510415.1:p.Lys50Ter
ENST00000687736.1:c.148A>T	ENSP00000509627.1:p.Lys50Ter
ENST00000688179.1:c.148A>T	ENSP00000508635.1:p.Lys50Ter
ENST00000689816.1:c.148A>T	ENSP00000508450.1:p.Lys50Ter
ENST00000690891.1:c.148A>T	ENSP00000509744.1:p.Lys50Ter
ENST00000691220.1:c.148A>T	ENSP00000509580.1:p.Lys50Ter
ENST00000691799.1:n.151A>T
ENST00000692260.1:n.163A>T
ENST00000273077.9:c.148A>T MANE Select	ENSP00000273077.4:p.Lys50Ter
ENST00000248451.7:c.148A>T	ENSP00000248451.3:p.Lys50Ter
ENST00000273077.8:c.148A>T	ENSP00000273077.4:p.Lys50Ter
ENST00000469689.1:n.942A>T
ENST00000472650.1:n.82A>T
NM_001077399.2:c.148A>T	NP_001070867.1:p.Lys50Ter
NM_015488.4:c.148A>T	NP_056303.3:p.Lys50Ter
XM_017003771.1:c.148A>T	XP_016859260.1:p.Lys50Ter
NM_015488.5:c.148A>T MANE Select	NP_056303.3:p.Lys50Ter
NM_001077399.3:c.148A>T	NP_001070867.1:p.Lys50Ter