Canonical Allele Identifier: CA2103884

Gene: PNKD CATIP-AS2

Linked Data

• ClinVar Variation Id: 432158
• ClinVar RCV Id: RCV000497338
• dbSNP Id: rs201495280
• ExAC: 2:219204562 G / C
• gnomAD v2: 2-219204562-G-C
• gnomAD v4: 2-218339839-G-C
• MyVariant Identifiers: chr2:g.219204562G>C (hg19) ; chr2:g.218339839G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218339839G>C , CM000664.2:g.218339839G>C	GRCh38
NC_000002.11:g.219204562G>C , CM000664.1:g.219204562G>C	GRCh37
NC_000002.10:g.218912806G>C	NCBI36
NG_017060.1:g.74448G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436005.3:c.293G>C (PNKD)	ENSP00000414400.3:p.Arg98Pro
ENST00000684905.1:n.304G>C (PNKD)
ENST00000685415.1:c.410G>C (PNKD)	ENSP00000510415.1:p.Arg137Pro
ENST00000687736.1:c.293G>C (PNKD)	ENSP00000509627.1:p.Arg98Pro
ENST00000688179.1:c.293G>C (PNKD)	ENSP00000508635.1:p.Arg98Pro
ENST00000689098.1:n.210G>C (PNKD)
ENST00000689816.1:c.293G>C (PNKD)	ENSP00000508450.1:p.Arg98Pro
ENST00000690891.1:c.438G>C (PNKD)	ENSP00000509744.1:n.438G>C
ENST00000691220.1:c.237-2142G>C (PNKD)	ENSP00000509580.1:n.237-2142G>C
ENST00000691799.1:n.240-4969G>C (PNKD)
ENST00000692295.1:c.165-1695G>C (PNKD)	ENSP00000509392.1:n.165-1695G>C
ENST00000693423.1:c.165-4616G>C (PNKD)	ENSP00000508705.1:n.165-4616G>C
ENST00000273077.9:c.293G>C (PNKD) MANE Select	ENSP00000273077.4:p.Arg98Pro
ENST00000258362.7:c.221G>C (PNKD)	ENSP00000258362.3:p.Arg74Pro
ENST00000273077.8:c.293G>C (PNKD)	ENSP00000273077.4:p.Arg98Pro
ENST00000436005.2:c.113G>C (PNKD)	ENSP00000414400.2:p.Arg38Pro
NM_015488.4:c.293G>C (PNKD)	NP_056303.3:p.Arg98Pro
NM_022572.4:c.221G>C (PNKD)	NP_072094.1:p.Arg74Pro
NR_125777.1:n.120+11321C>G (CATIP-AS2)
XM_017003771.1:c.293G>C (PNKD)	XP_016859260.1:p.Arg98Pro
XM_017003772.1:c.221G>C (PNKD)	XP_016859261.1:p.Arg74Pro
NM_015488.5:c.293G>C (PNKD) MANE Select	NP_056303.3:p.Arg98Pro