Canonical Allele Identifier: CA2103887

Gene: PNKD CATIP-AS2

Linked Data

• ClinVar Variation Id: 468628
• ClinVar RCV Id: RCV002232313 ; RCV003133332
• dbSNP Id: rs533033409
• ExAC: 2:219204570 C / T
• gnomAD v2: 2-219204570-C-T
• gnomAD v3: 2-218339847-C-T
• gnomAD v4: 2-218339847-C-T
• MyVariant Identifiers: chr2:g.219204570C>T (hg19) ; chr2:g.218339847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218339847C>T , CM000664.2:g.218339847C>T	GRCh38
NC_000002.11:g.219204570C>T , CM000664.1:g.219204570C>T	GRCh37
NC_000002.10:g.218912814C>T	NCBI36
NG_017060.1:g.74456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436005.3:c.301C>T (PNKD)	ENSP00000414400.3:p.Arg101Trp
ENST00000684905.1:n.312C>T (PNKD)
ENST00000685415.1:c.418C>T (PNKD)	ENSP00000510415.1:p.Arg140Trp
ENST00000687736.1:c.301C>T (PNKD)	ENSP00000509627.1:p.Arg101Trp
ENST00000688179.1:c.301C>T (PNKD)	ENSP00000508635.1:p.Arg101Trp
ENST00000689098.1:n.218C>T (PNKD)
ENST00000689816.1:c.301C>T (PNKD)	ENSP00000508450.1:p.Arg101Trp
ENST00000690891.1:c.446C>T (PNKD)	ENSP00000509744.1:n.446C>T
ENST00000691220.1:c.237-2134C>T (PNKD)	ENSP00000509580.1:n.237-2134C>T
ENST00000691799.1:n.240-4961C>T (PNKD)
ENST00000692295.1:c.165-1687C>T (PNKD)	ENSP00000509392.1:n.165-1687C>T
ENST00000693423.1:c.165-4608C>T (PNKD)	ENSP00000508705.1:n.165-4608C>T
ENST00000273077.9:c.301C>T (PNKD) MANE Select	ENSP00000273077.4:p.Arg101Trp
ENST00000258362.7:c.229C>T (PNKD)	ENSP00000258362.3:p.Arg77Trp
ENST00000273077.8:c.301C>T (PNKD)	ENSP00000273077.4:p.Arg101Trp
ENST00000436005.2:c.121C>T (PNKD)	ENSP00000414400.2:p.Arg41Trp
NM_015488.4:c.301C>T (PNKD)	NP_056303.3:p.Arg101Trp
NM_022572.4:c.229C>T (PNKD)	NP_072094.1:p.Arg77Trp
NR_125777.1:n.120+11313G>A (CATIP-AS2)
XM_017003771.1:c.301C>T (PNKD)	XP_016859260.1:p.Arg101Trp
XM_017003772.1:c.229C>T (PNKD)	XP_016859261.1:p.Arg77Trp
NM_015488.5:c.301C>T (PNKD) MANE Select	NP_056303.3:p.Arg101Trp